X-2408200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408200
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408200
    reference: chr 0
allele count: 37
allele frequency: 3.050087380881722e-4
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.561G>A
  hgvsp: ENST00000381223.4:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.561G>A
  hgvsp: ENST00000461691.1:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12602G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.561G>A
  hgvsp: ENST00000381218.3:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10152G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10658G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10658G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.561G>A
  hgvsp: ENST00000381222.2:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10658G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10152G>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu187Glu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

X-2408203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408203
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408203
    reference: chr 0
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10655G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12599G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.558G>A
  hgvsp: ENST00000381218.3:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.558G>A
  hgvsp: ENST00000381222.2:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.558G>A
  hgvsp: ENST00000461691.1:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10655G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10655G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.558G>A
  hgvsp: ENST00000381223.4:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10149G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10149G>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys186Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

X-2408209-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408209
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408209
    reference: chr 0
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.552C>G
  hgvsp: ENSP00000419148.1:p.Ile184Met
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10649C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10143C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.552C>G
  hgvsp: ENSP00000370616.3:p.Ile184Met
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.552C>G
  hgvsp: ENSP00000370620.2:p.Ile184Met
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10649C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.552C>G
  hgvsp: ENSP00000370621.4:p.Ile184Met
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12593C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10143C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10649C>G
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile184Met
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-2408217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408217
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408217
    reference: chr 0
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.544G>A
  hgvsp: ENSP00000370616.3:p.Glu182Lys
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.544G>A
  hgvsp: ENSP00000370620.2:p.Glu182Lys
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12585G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10641G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.544G>A
  hgvsp: ENSP00000419148.1:p.Glu182Lys
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.544G>A
  hgvsp: ENSP00000370621.4:p.Glu182Lys
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10135G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10641G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10135G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10641G>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu182Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

X-2408218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408218
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408218
    reference: chr 0
allele count: 6
allele frequency: 4.945272319662403e-5
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10134G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10640G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10640G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12584G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.543G>A
  hgvsp: ENST00000381223.4:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10640G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.543G>A
  hgvsp: ENST00000461691.1:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10134G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.543G>A
  hgvsp: ENST00000381222.2:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.543G>A
  hgvsp: ENST00000381218.3:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg181Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum

X-2408223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408223
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408223
    reference: chr 0
allele count: 6
allele frequency: 4.945109286915241e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10129G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10635G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10635G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12579G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10635G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.538G>A
  hgvsp: ENSP00000370621.4:p.Val180Ile
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10129G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.538G>A
  hgvsp: ENSP00000370620.2:p.Val180Ile
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.538G>A
  hgvsp: ENSP00000419148.1:p.Val180Ile
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.538G>A
  hgvsp: ENSP00000370616.3:p.Val180Ile
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val180Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

X-2408224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408224
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408224
    reference: chr 0
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10634C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.537C>T
  hgvsp: ENST00000381218.3:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10128C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.537C>T
  hgvsp: ENST00000381223.4:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.537C>T
  hgvsp: ENST00000461691.1:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.537C>T
  hgvsp: ENST00000381222.2:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12578C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10634C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10634C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10128C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala179Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-2408230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408230
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408230
    reference: chr 0
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.531C>T
  hgvsp: ENST00000381218.3:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10122C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10628C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.531C>T
  hgvsp: ENST00000381223.4:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10628C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10122C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12572C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.531C>T
  hgvsp: ENST00000381222.2:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10628C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.531C>T
  hgvsp: ENST00000461691.1:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr177Tyr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

X-2408242-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408242
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408242
    reference: chr 0
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12560C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10110C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10616C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.519C>G
  hgvsp: ENSP00000370616.3:p.Ile173Met
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10110C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10616C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10616C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.519C>G
  hgvsp: ENSP00000370620.2:p.Ile173Met
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.519C>G
  hgvsp: ENSP00000370621.4:p.Ile173Met
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.519C>G
  hgvsp: ENSP00000419148.1:p.Ile173Met
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile173Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

X-2408252-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408252
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408252
    reference: chr 0
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.509C>A
  hgvsp: ENSP00000419148.1:p.Thr170Asn
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.509C>A
  hgvsp: ENSP00000370620.2:p.Thr170Asn
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10606C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10606C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10100C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12550C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.509C>A
  hgvsp: ENSP00000370621.4:p.Thr170Asn
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10606C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.509C>A
  hgvsp: ENSP00000370616.3:p.Thr170Asn
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10100C>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr170Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

X-2408253-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408253
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408253
    reference: chr 0
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10605A>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.508A>T
  hgvsp: ENSP00000370620.2:p.Thr170Ser
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.508A>T
  hgvsp: ENSP00000419148.1:p.Thr170Ser
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10605A>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.508A>T
  hgvsp: ENSP00000370616.3:p.Thr170Ser
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10605A>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10099A>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12549A>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10099A>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.508A>T
  hgvsp: ENSP00000370621.4:p.Thr170Ser
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr170Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

X-2408253-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408253
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408253
    reference: chr 0
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10605A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10605A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.508A>G
  hgvsp: ENSP00000370616.3:p.Thr170Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.508A>G
  hgvsp: ENSP00000419148.1:p.Thr170Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.508A>G
  hgvsp: ENSP00000370620.2:p.Thr170Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12549A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.508A>G
  hgvsp: ENSP00000370621.4:p.Thr170Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10605A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10099A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10099A>G
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33602
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr170Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

X-2408254-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408254
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408254
    reference: chr 0
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12548T>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10604T>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10604T>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.507T>A
  hgvsp: ENST00000381222.2:c.507T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10098T>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.507T>A
  hgvsp: ENST00000381223.4:c.507T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.507T>A
  hgvsp: ENST00000381218.3:c.507T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10604T>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.507T>A
  hgvsp: ENST00000461691.1:c.507T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10098T>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser169Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

X-2408256-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408256
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408256
    reference: chr 0
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10602T>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10602T>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.505T>G
  hgvsp: ENSP00000370620.2:p.Ser169Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.505T>G
  hgvsp: ENSP00000370616.3:p.Ser169Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10602T>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10096T>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10096T>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.505T>G
  hgvsp: ENSP00000419148.1:p.Ser169Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.505T>G
  hgvsp: ENSP00000370621.4:p.Ser169Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12546T>G
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser169Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

X-2408257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408257
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408257
    reference: chr 0
allele count: 21
allele frequency: 1.73053152039555e-4
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.504C>T
  hgvsp: ENST00000381222.2:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10601C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.504C>T
  hgvsp: ENST00000381223.4:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10095C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10601C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.504C>T
  hgvsp: ENST00000381218.3:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12545C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10095C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.504C>T
  hgvsp: ENST00000461691.1:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10601C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile168Ile
num of homozygotes: 1
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

X-2408259-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408259
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408259
    reference: chr 0
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10599A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10599A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.502A>C
  hgvsp: ENSP00000419148.1:p.Ile168Leu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10599A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.502A>C
  hgvsp: ENSP00000370621.4:p.Ile168Leu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10093A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12543A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.502A>C
  hgvsp: ENSP00000370616.3:p.Ile168Leu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.502A>C
  hgvsp: ENSP00000370620.2:p.Ile168Leu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10093A>C
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile168Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

X-2408263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408263
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408263
    reference: chr 0
allele count: 11
allele frequency: 9.064688916357643e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10595G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.498G>A
  hgvsp: ENST00000381223.4:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.498G>A
  hgvsp: ENST00000381222.2:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10089G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12539G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10089G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10595G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.498G>A
  hgvsp: ENST00000461691.1:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.498G>A
  hgvsp: ENST00000381218.3:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10595G>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys166Lys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

X-2408265-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408265
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408265
    reference: chr 0
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10087A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10593A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.496A>C
  hgvsp: ENSP00000419148.1:p.Lys166Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10593A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.496A>C
  hgvsp: ENSP00000370616.3:p.Lys166Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10593A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.496A>C
  hgvsp: ENSP00000370621.4:p.Lys166Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12537A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.496A>C
  hgvsp: ENSP00000370620.2:p.Lys166Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10087A>C
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20682
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys166Gln
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

X-2408267-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408267
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408267
    reference: chr 0
allele count: 3
allele frequency: 2.47222863170386e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.494G>A
  hgvsp: ENSP00000370616.3:p.Arg165Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12535G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10591G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.494G>A
  hgvsp: ENSP00000419148.1:p.Arg165Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10591G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10085G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.494G>A
  hgvsp: ENSP00000370621.4:p.Arg165Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.494G>A
  hgvsp: ENSP00000370620.2:p.Arg165Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10085G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10591G>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg165Gln
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

X-2408268-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408268
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408268
    reference: chr 0
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10590C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12534C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.493C>A
  hgvsp: ENST00000381218.3:c.493C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.493C>A
  hgvsp: ENST00000381223.4:c.493C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10590C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10084C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10084C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.493C>A
  hgvsp: ENST00000381222.2:c.493C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10590C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.493C>A
  hgvsp: ENST00000461691.1:c.493C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4435
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg165Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

X-2408279-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408279
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408279
    reference: chr 0
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.482A>T
  hgvsp: ENSP00000370616.3:p.Glu161Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10579A>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10073A>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.482A>T
  hgvsp: ENSP00000419148.1:p.Glu161Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10579A>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.482A>T
  hgvsp: ENSP00000370620.2:p.Glu161Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12523A>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10073A>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.482A>T
  hgvsp: ENSP00000370621.4:p.Glu161Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10579A>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu161Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

X-2408281-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408281
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408281
    reference: chr 0
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.480T>C
  hgvsp: ENST00000381223.4:c.480T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.480T>C
  hgvsp: ENST00000381218.3:c.480T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.480T>C
  hgvsp: ENST00000381222.2:c.480T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10577T>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10071T>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10577T>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10071T>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.480T>C
  hgvsp: ENST00000461691.1:c.480T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10577T>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12521T>C
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr160Tyr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

X-2408284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408284
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408284
    reference: chr 0
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10574G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.477G>A
  hgvsp: ENST00000381222.2:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10574G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12518G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10068G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.477G>A
  hgvsp: ENST00000461691.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10068G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.477G>A
  hgvsp: ENST00000381218.3:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10574G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.477G>A
  hgvsp: ENST00000381223.4:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg159Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum

X-2408285-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408285
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408285
    reference: chr 0
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10573G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12517G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10067G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10067G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.476G>A
  hgvsp: ENSP00000419148.1:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10573G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.476G>A
  hgvsp: ENSP00000370621.4:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10573G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.476G>A
  hgvsp: ENSP00000370616.3:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.476G>A
  hgvsp: ENSP00000370620.2:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg159Gln
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

X-2408286-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408286
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408286
    reference: chr 0
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10572C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.475C>T
  hgvsp: ENSP00000370616.3:p.Arg159Trp
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.475C>T
  hgvsp: ENSP00000419148.1:p.Arg159Trp
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.475C>T
  hgvsp: ENSP00000370621.4:p.Arg159Trp
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10066C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10572C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10066C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10572C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12516C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.475C>T
  hgvsp: ENSP00000370620.2:p.Arg159Trp
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg159Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

X-2408287-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408287
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408287
    reference: chr 0
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.474C>G
  hgvsp: ENST00000381222.2:c.474C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.474C>G
  hgvsp: ENST00000381218.3:c.474C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.474C>G
  hgvsp: ENST00000461691.1:c.474C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10065C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12515C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10065C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.474C>G
  hgvsp: ENST00000381223.4:c.474C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10571C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10571C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10571C>G
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro158Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

X-2408292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408292
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408292
    reference: chr 0
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.469G>A
  hgvsp: ENSP00000370621.4:p.Asp157Asn
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12510G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.469G>A
  hgvsp: ENSP00000370620.2:p.Asp157Asn
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10566G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10060G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10566G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.469G>A
  hgvsp: ENSP00000419148.1:p.Asp157Asn
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10060G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10566G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.469G>A
  hgvsp: ENSP00000370616.3:p.Asp157Asn
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp157Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

X-2408293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408293
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408293
    reference: chr 0
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.468C>T
  hgvsp: ENST00000461691.1:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10059C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.468C>T
  hgvsp: ENST00000381222.2:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10565C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.468C>T
  hgvsp: ENST00000381223.4:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10565C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10565C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12509C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10059C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.468C>T
  hgvsp: ENST00000381218.3:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala156Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

X-2408314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408314
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408314
    reference: chr 0
allele count: 3
allele frequency: 2.472350876036327e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.447C>T
  hgvsp: ENST00000381218.3:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10544C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12488C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10038C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10038C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.447C>T
  hgvsp: ENST00000381223.4:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.447C>T
  hgvsp: ENST00000381222.2:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10544C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10544C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.447C>T
  hgvsp: ENST00000461691.1:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe149Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

X-2408319-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408319
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408319
    reference: chr 0
allele count: 36
allele frequency: 2.966918854769322e-4
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10539A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10033A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.442A>G
  hgvsp: ENSP00000370620.2:p.Thr148Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10033A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.442A>G
  hgvsp: ENSP00000419148.1:p.Thr148Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12483A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.442A>G
  hgvsp: ENSP00000370616.3:p.Thr148Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.442A>G
  hgvsp: ENSP00000370621.4:p.Thr148Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10539A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10539A>G
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr148Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

X-2408326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408326
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408326
    reference: chr 0
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.435C>T
  hgvsp: ENST00000381223.4:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10532C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10532C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.435C>T
  hgvsp: ENST00000461691.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10026C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10532C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.435C>T
  hgvsp: ENST00000381218.3:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.435C>T
  hgvsp: ENST00000381222.2:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12476C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10026C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp145Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

X-2408332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408332
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408332
    reference: chr 0
allele count: 3
allele frequency: 2.472962279082036e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10526C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12470C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10526C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.429C>T
  hgvsp: ENST00000381218.3:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10020C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.429C>T
  hgvsp: ENST00000461691.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10020C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.429C>T
  hgvsp: ENST00000381223.4:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.429C>T
  hgvsp: ENST00000381222.2:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10526C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile143Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

X-2408334-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408334
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408334
    reference: chr 0
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.427A>C
  hgvsp: ENSP00000370620.2:p.Ile143Leu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.427A>C
  hgvsp: ENSP00000370621.4:p.Ile143Leu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10018A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10524A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12468A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10018A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.427A>C
  hgvsp: ENSP00000419148.1:p.Ile143Leu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10524A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10524A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.427A>C
  hgvsp: ENSP00000370616.3:p.Ile143Leu
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile143Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

X-2408335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408335
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408335
    reference: chr 0
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.426C>T
  hgvsp: ENST00000381222.2:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10017C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10523C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.426C>T
  hgvsp: ENST00000381223.4:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10523C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12467C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.426C>T
  hgvsp: ENST00000381218.3:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10017C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.426C>T
  hgvsp: ENST00000461691.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10523C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9544
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser142Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

X-2408337-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408337
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408337
    reference: chr 0
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10521T>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.424T>G
  hgvsp: ENSP00000370620.2:p.Ser142Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10521T>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10015T>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10521T>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.424T>G
  hgvsp: ENSP00000370621.4:p.Ser142Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.424T>G
  hgvsp: ENSP00000419148.1:p.Ser142Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12465T>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.424T>G
  hgvsp: ENSP00000370616.3:p.Ser142Ala
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10015T>G
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser142Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

X-2408338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408338
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408338
    reference: chr 0
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.423C>T
  hgvsp: ENST00000381223.4:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.423C>T
  hgvsp: ENST00000381218.3:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.423C>T
  hgvsp: ENST00000461691.1:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10520C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10520C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10014C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.423C>T
  hgvsp: ENST00000381222.2:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10520C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12464C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10014C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala141Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

X-2408339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408339
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408339
    reference: chr 0
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10519C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.422C>T
  hgvsp: ENSP00000370616.3:p.Ala141Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10519C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.422C>T
  hgvsp: ENSP00000370621.4:p.Ala141Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10013C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10519C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.422C>T
  hgvsp: ENSP00000419148.1:p.Ala141Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.422C>T
  hgvsp: ENSP00000370620.2:p.Ala141Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12463C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10013C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala141Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

X-2408342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408342
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408342
    reference: chr 0
allele count: 4
allele frequency: 3.297935492381769e-5
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.419C>T
  hgvsp: ENSP00000370616.3:p.Pro140Leu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.419C>T
  hgvsp: ENSP00000370621.4:p.Pro140Leu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10010C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12460C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10010C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10516C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10516C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.419C>T
  hgvsp: ENSP00000370620.2:p.Pro140Leu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10516C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.419C>T
  hgvsp: ENSP00000419148.1:p.Pro140Leu
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro140Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS

X-2408347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408347
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408347
    reference: chr 0
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10511G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10511G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.414G>A
  hgvsp: ENST00000381222.2:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10511G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.414G>A
  hgvsp: ENST00000381218.3:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.414G>A
  hgvsp: ENST00000461691.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12455G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.414G>A
  hgvsp: ENST00000381223.4:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10005G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10005G>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu138Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

X-2408348-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408348
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408348
    reference: chr 0
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.413T>C
  hgvsp: ENSP00000370616.3:p.Leu138Pro
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+10004T>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.413T>C
  hgvsp: ENSP00000419148.1:p.Leu138Pro
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10510T>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.413T>C
  hgvsp: ENSP00000370620.2:p.Leu138Pro
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.413T>C
  hgvsp: ENSP00000370621.4:p.Leu138Pro
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10510T>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10510T>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+10004T>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12454T>C
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu138Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

X-2408353-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408353
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408353
    reference: chr 0
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12449G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10505G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.408G>A
  hgvsp: ENST00000381222.2:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10505G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.408G>A
  hgvsp: ENST00000381218.3:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9999G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.408G>A
  hgvsp: ENST00000461691.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10505G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9999G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.408G>A
  hgvsp: ENST00000381223.4:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu136Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

X-2408355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408355
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408355
    reference: chr 0
allele count: 2
allele frequency: 1.650056101907465e-5
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.406G>A
  hgvsp: ENSP00000370620.2:p.Glu136Lys
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9997G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10503G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9997G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.406G>A
  hgvsp: ENSP00000370616.3:p.Glu136Lys
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.406G>A
  hgvsp: ENSP00000419148.1:p.Glu136Lys
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.406G>A
  hgvsp: ENSP00000370621.4:p.Glu136Lys
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10503G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10503G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12447G>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu136Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

X-2408356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408356
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408356
    reference: chr 0
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10502C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.405C>T
  hgvsp: ENST00000461691.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.405C>T
  hgvsp: ENST00000381223.4:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9996C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12446C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.405C>T
  hgvsp: ENST00000381222.2:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.405C>T
  hgvsp: ENST00000381218.3:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10502C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9996C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10502C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys135Cys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

X-2408357-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408357
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408357
    reference: chr 0
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.404G>T
  hgvsp: ENSP00000370616.3:p.Cys135Phe
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.404G>T
  hgvsp: ENSP00000370620.2:p.Cys135Phe
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10501G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.404G>T
  hgvsp: ENSP00000419148.1:p.Cys135Phe
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10501G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9995G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9995G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10501G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12445G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.404G>T
  hgvsp: ENSP00000370621.4:p.Cys135Phe
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys135Phe
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS

X-2408362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408362
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408362
    reference: chr 0
allele count: 2
allele frequency: 1.650791554550407e-5
allele num: 121154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.399C>T
  hgvsp: ENST00000381218.3:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12440C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.399C>T
  hgvsp: ENST00000461691.1:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10496C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.399C>T
  hgvsp: ENST00000381222.2:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9990C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.399C>T
  hgvsp: ENST00000381223.4:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9990C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10496C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10496C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu133Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

X-2408364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408364
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408364
    reference: chr 0
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9988C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10494C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10494C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12438C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.397C>T
  hgvsp: ENSP00000370621.4:p.Leu133Phe
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.397C>T
  hgvsp: ENSP00000370620.2:p.Leu133Phe
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10494C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9988C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.397C>T
  hgvsp: ENSP00000419148.1:p.Leu133Phe
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.397C>T
  hgvsp: ENSP00000370616.3:p.Leu133Phe
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu133Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

X-2408365-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408365
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408365
    reference: chr 0
allele count: 9
allele frequency: 7.436541512427287e-5
allele num: 121024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9987C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12437C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10493C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.396C>T
  hgvsp: ENST00000461691.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.396C>T
  hgvsp: ENST00000381222.2:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10493C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.396C>T
  hgvsp: ENST00000381223.4:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9987C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10493C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.396C>T
  hgvsp: ENST00000381218.3:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20035
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly132Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

X-2408365-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408365
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408365
    reference: chr 0
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9987C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.396C>A
  hgvsp: ENST00000381222.2:c.396C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12437C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10493C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10493C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.396C>A
  hgvsp: ENST00000381218.3:c.396C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10493C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.396C>A
  hgvsp: ENST00000381223.4:c.396C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9987C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.396C>A
  hgvsp: ENST00000461691.1:c.396C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly132Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

X-2408385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408385
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408385
    reference: chr 0
allele count: 1
allele frequency: 8.279105194310599e-6
allele num: 120786
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10473C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.376C>T
  hgvsp: ENST00000381218.3:c.376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9967C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.376C>T
  hgvsp: ENST00000461691.1:c.376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.376C>T
  hgvsp: ENST00000381222.2:c.376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12417C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.376C>T
  hgvsp: ENST00000381223.4:c.376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10473C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10473C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9967C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu126Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

X-2408393-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408393
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408393
    reference: chr 0
allele count: 1
allele frequency: 8.278008642241022e-6
allele num: 120802
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.368A>G
  hgvsp: ENSP00000370621.4:p.Gln123Arg
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.368A>G
  hgvsp: ENSP00000419148.1:p.Gln123Arg
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.368A>G
  hgvsp: ENSP00000370620.2:p.Gln123Arg
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10465A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.368A>G
  hgvsp: ENSP00000370616.3:p.Gln123Arg
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10465A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9959A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10465A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12409A>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9959A>G
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln123Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

X-2408397-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408397
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408397
    reference: chr 0
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.364A>C
  hgvsp: ENSP00000370616.3:p.Lys122Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.364A>C
  hgvsp: ENSP00000370621.4:p.Lys122Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10461A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.364A>C
  hgvsp: ENSP00000419148.1:p.Lys122Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.364A>C
  hgvsp: ENSP00000370620.2:p.Lys122Gln
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10461A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9955A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10461A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9955A>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12405A>C
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys122Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

X-2408407-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408407
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408407
    reference: chr 0
allele count: 9
allele frequency: 7.452798940046373e-5
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.354C>T
  hgvsp: ENST00000381222.2:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9945C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10451C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12395C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.354C>T
  hgvsp: ENST00000381223.4:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.354C>T
  hgvsp: ENST00000461691.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9945C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10451C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10451C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.354C>T
  hgvsp: ENST00000381218.3:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr118Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

X-2408407-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408407
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408407
    reference: chr 0
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.354C>A
  hgvsp: ENSP00000370621.4:p.Tyr118Ter
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.354C>A
  hgvsp: ENSP00000370616.3:p.Tyr118Ter
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.354C>A
  hgvsp: ENSP00000370620.2:p.Tyr118Ter
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9945C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10451C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10451C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12395C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10451C>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.354C>A
  hgvsp: ENSP00000419148.1:p.Tyr118Ter
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9945C>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr118Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-2408412-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408412
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408412
    reference: chr 0
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.349G>T
  hgvsp: ENSP00000370616.3:p.Gly117Cys
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12390G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10446G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.349G>T
  hgvsp: ENSP00000370621.4:p.Gly117Cys
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10446G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.349G>T
  hgvsp: ENSP00000370620.2:p.Gly117Cys
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.349G>T
  hgvsp: ENSP00000419148.1:p.Gly117Cys
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10446G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9940G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9940G>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 1
hgvs: p.Gly117Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

X-2408412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408412
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408412
    reference: chr 0
allele count: 2
allele frequency: 1.655300271469245e-5
allele num: 120824
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10446G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10446G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.349G>A
  hgvsp: ENSP00000370620.2:p.Gly117Ser
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.349G>A
  hgvsp: ENSP00000370621.4:p.Gly117Ser
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10446G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.349G>A
  hgvsp: ENSP00000370616.3:p.Gly117Ser
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.349G>A
  hgvsp: ENSP00000419148.1:p.Gly117Ser
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12390G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9940G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9940G>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly117Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

X-2408413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408413
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408413
    reference: chr 0
allele count: 3
allele frequency: 2.482334055968359e-5
allele num: 120854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.348C>T
  hgvsp: ENST00000461691.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.348C>T
  hgvsp: ENST00000381222.2:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.348C>T
  hgvsp: ENST00000381223.4:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10445C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9939C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12389C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.348C>T
  hgvsp: ENST00000381218.3:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9939C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10445C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10445C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His116His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

X-2408418-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408418
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408418
    reference: chr 0
allele count: 2
allele frequency: 1.654423929587718e-5
allele num: 120888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9934G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.343G>A
  hgvsp: ENSP00000370616.3:p.Gly115Ser
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.343G>A
  hgvsp: ENSP00000370621.4:p.Gly115Ser
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.343G>A
  hgvsp: ENSP00000419148.1:p.Gly115Ser
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12384G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10440G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10440G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.343G>A
  hgvsp: ENSP00000370620.2:p.Gly115Ser
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10440G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9934G>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20438
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly115Ser
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS

X-2408419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408419
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408419
    reference: chr 0
allele count: 12
allele frequency: 9.923424242925425e-5
allele num: 120926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9933C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10439C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10439C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.342C>T
  hgvsp: ENST00000381222.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.342C>T
  hgvsp: ENST00000461691.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12383C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10439C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.342C>T
  hgvsp: ENST00000381223.4:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9933C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.342C>T
  hgvsp: ENST00000381218.3:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala114Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

X-2408420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408420
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408420
    reference: chr 0
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.341C>T
  hgvsp: ENSP00000419148.1:p.Ala114Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12382C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.341C>T
  hgvsp: ENSP00000370616.3:p.Ala114Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.341C>T
  hgvsp: ENSP00000370621.4:p.Ala114Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10438C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.341C>T
  hgvsp: ENSP00000370620.2:p.Ala114Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9932C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10438C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10438C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9932C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala114Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

X-2408427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408427
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408427
    reference: chr 0
allele count: 14
allele frequency: 1.156145740428765e-4
allele num: 121092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.334G>A
  hgvsp: ENSP00000419148.1:p.Val112Ile
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10431G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9925G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12375G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10431G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.334G>A
  hgvsp: ENSP00000370616.3:p.Val112Ile
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.334G>A
  hgvsp: ENSP00000370621.4:p.Val112Ile
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.334G>A
  hgvsp: ENSP00000370620.2:p.Val112Ile
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10431G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9925G>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val112Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-2408428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408428
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408428
    reference: chr 0
allele count: 6
allele frequency: 4.953928465272961e-5
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.333C>T
  hgvsp: ENST00000381222.2:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12374C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10430C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9924C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9924C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.333C>T
  hgvsp: ENST00000461691.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10430C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.333C>T
  hgvsp: ENST00000381223.4:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10430C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.333C>T
  hgvsp: ENST00000381218.3:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala111Ala
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

X-2408434-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408434
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408434
    reference: chr 0
allele count: 2
allele frequency: 1.649865535958819e-5
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10424G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9918G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12368G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10424G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.327G>T
  hgvsp: ENST00000381223.4:c.327G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.327G>T
  hgvsp: ENST00000461691.1:c.327G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9918G>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.327G>T
  hgvsp: ENST00000381222.2:c.327G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.327G>T
  hgvsp: ENST00000381218.3:c.327G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10424G>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala109Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum

X-2408434-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408434
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408434
    reference: chr 0
allele count: 2
allele frequency: 1.649865535958819e-5
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.327G>C
  hgvsp: ENST00000381218.3:c.327G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10424G>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9918G>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.327G>C
  hgvsp: ENST00000381222.2:c.327G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10424G>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.327G>C
  hgvsp: ENST00000381223.4:c.327G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.327G>C
  hgvsp: ENST00000461691.1:c.327G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9918G>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12368G>C
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10424G>C
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala109Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

X-2408435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408435
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408435
    reference: chr 0
allele count: 10
allele frequency: 8.247014580721778e-5
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10423C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.326C>T
  hgvsp: ENSP00000370616.3:p.Ala109Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.326C>T
  hgvsp: ENSP00000419148.1:p.Ala109Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10423C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.326C>T
  hgvsp: ENSP00000370620.2:p.Ala109Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12367C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9917C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.326C>T
  hgvsp: ENSP00000370621.4:p.Ala109Val
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9917C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10423C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala109Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

X-2408436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408436
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408436
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10422G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12366G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9916G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.325G>A
  hgvsp: ENSP00000370616.3:p.Ala109Thr
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.325G>A
  hgvsp: ENSP00000419148.1:p.Ala109Thr
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.325G>A
  hgvsp: ENSP00000370620.2:p.Ala109Thr
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10422G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10422G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.325G>A
  hgvsp: ENSP00000370621.4:p.Ala109Thr
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9916G>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9525
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala109Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

X-2408437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408437
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408437
    reference: chr 0
allele count: 29972
allele frequency: 2.471591377632642e-1
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9915C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12365C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10421C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.324C>T
  hgvsp: ENST00000381223.4:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.324C>T
  hgvsp: ENST00000381222.2:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.324C>T
  hgvsp: ENST00000381218.3:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10421C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.324C>T
  hgvsp: ENST00000461691.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10421C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9915C>T
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 1933
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 6.75e1
  variant carriers: 1736
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.75e1
  variant carriers: 686
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 3.75e1
  variant carriers: 332
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 907
genotype depth: GenotypeDepth
  all individuals: 12209
  bin: 2.75e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 5.75e1
  variant carriers: 1208
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 2.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 8.75e1
  variant carriers: 1915
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 9.75e1
  variant carriers: 8394
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 3.25e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 8.25e1
  variant carriers: 2072
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 7.75e1
  variant carriers: 2062
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 9.25e1
  variant carriers: 1807
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.25e1
  variant carriers: 527
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 6.25e1
  variant carriers: 1537
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 3
hgvs: p.Asp108Asp
num of homozygotes: 4155
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

X-2408437-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408437
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408437
    reference: chr 0
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10421C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.324C>G
  hgvsp: ENSP00000370616.3:p.Asp108Glu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12365C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9915C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.324C>G
  hgvsp: ENSP00000370620.2:p.Asp108Glu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9915C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.324C>G
  hgvsp: ENSP00000419148.1:p.Asp108Glu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.324C>G
  hgvsp: ENSP00000370621.4:p.Asp108Glu
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10421C>G
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10421C>G
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19144
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp108Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

X-2408440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408440
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408440
    reference: chr 0
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10418G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.321G>A
  hgvsp: ENST00000381222.2:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9912G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10418G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.321G>A
  hgvsp: ENST00000461691.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10418G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.321G>A
  hgvsp: ENST00000381218.3:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.321G>A
  hgvsp: ENST00000381223.4:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9912G>A
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12362G>A
  variant of: http://identifiers.org/hgnc/18399
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21736
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln107Gln
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: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

X-2408446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24002408446
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24002408446
    reference: chr 0
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000391778
  ensembl transcript: ENST00000412516
  gene symbol: DHRSX
  hgvsc: ENST00000412516.2:c.109+10412C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370616
  ensembl transcript: ENST00000381218
  gene symbol: ZBED1
  hgvsc: ENST00000381218.3:c.315C>T
  hgvsp: ENST00000381218.3:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000403045
  ensembl transcript: ENST00000441131
  gene symbol: DHRSX
  hgvsc: ENST00000441131.2:c.7+12356C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000334113
  ensembl transcript: ENST00000334651
  gene symbol: DHRSX
  hgvsc: ENST00000334651.5:c.109+10412C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000419148
  ensembl transcript: ENST00000461691
  gene symbol: ZBED1
  hgvsc: ENST00000461691.1:c.315C>T
  hgvsp: ENST00000461691.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000402741
  ensembl transcript: ENST00000444280
  gene symbol: DHRSX
  hgvsc: ENST00000444280.1:c.-93+9906C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370621
  ensembl transcript: ENST00000381223
  gene symbol: ZBED1
  hgvsc: ENST00000381223.4:c.315C>T
  hgvsp: ENST00000381223.4:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl transcript: ENST00000430536
  gene symbol: DHRSX
  hgvsc: ENST00000430536.2:n.144+10412C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169084
  ensembl protein: ENSP00000420788
  ensembl transcript: ENST00000478825
  gene symbol: DHRSX
  hgvsc: ENST00000478825.1:c.279+9906C>T
  variant of: http://identifiers.org/hgnc/18399
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214717
  ensembl protein: ENSP00000370620
  ensembl transcript: ENST00000381222
  gene symbol: ZBED1
  hgvsc: ENST00000381222.2:c.315C>T
  hgvsp: ENST00000381222.2:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro105Pro
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33549
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 9.75e1
variant carriers: 37

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 33
allele frequency: 3.174297806848788e-3
allele num: 10396
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.391e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.936e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

DP
type: SiteQuality
SIO_000300: 1.688869e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4078
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4443
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33575
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3595
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.219e0

DP
type: SiteQuality
SIO_000300: 1.684467e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.389e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

FS
type: SiteQuality
SIO_000300: 5.906e0

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

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9573
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33566
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4079
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.489e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 1.684815e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

QD
type: SiteQuality
SIO_000300: 1.237e1

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.525e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

DP
type: SiteQuality
SIO_000300: 1.684922e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.338e0

QD
type: SiteQuality
SIO_000300: 1.208e1

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4437
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 33490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3605
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11576
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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European (Non-Finnish)
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allele frequency: 8.999280057595392e-5
allele num: 66672
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -3.37e-1

InbreedingCoeff
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SIO_000300: 1.2e-2

ClippingRankSum
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FS
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SIO_000300: 1.744e0

VQSLOD
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ReadPosRankSum
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MQ
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SIO_000300: 5.947e1

QD
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SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 1.685992e6

MQRankSum
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SIO_000300: 6.39e-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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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
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African
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allele count: 5
allele frequency: 4.808617041738796e-4
allele num: 10398
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

South Asian
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allele num: 16512
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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MQ
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MQRankSum
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.686064e6

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.104e0

BaseQRankSum
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SIO_000300: -4.67e0

InbreedingCoeff
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SIO_000300: 1.25e-2

VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -1.162e0

MQ
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SIO_000300: 5.982e1

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
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

MQRankSum
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SIO_000300: 1.7e-2

DP
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SIO_000300: 1.686095e6

InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 9.8e-1

MQ
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QD
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele num: 16512
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66696
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African
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

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

Latino
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African
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South Asian
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VQSLOD
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

African
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allele frequency: 2.02000769526741e-3
allele num: 10396
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Latino
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allele frequency: 0.0e0
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
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SIO_000300: 1.2e0

ReadPosRankSum
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DP
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MQRankSum
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SIO_000300: 5.610000000000001e-1

InbreedingCoeff
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BaseQRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.47e-1

QD
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GenotypeQuality
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variant carriers: 11

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

Latino
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num of homozygotes: 0

Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.661821705426356e-4
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ClippingRankSum
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QD
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MQ
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Other
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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DP
type: SiteQuality
SIO_000300: 1.686524e6

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

GenotypeQuality
all individuals: 1211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4433
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.233e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

DP
type: SiteQuality
SIO_000300: 1.686526e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 4.123e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.33e0

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

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4079
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.86e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.495e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

FS
type: SiteQuality
SIO_000300: 8.218999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

DP
type: SiteQuality
SIO_000300: 1.686653e6

GenotypeQuality
all individuals: 9588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4078
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

FS
type: SiteQuality
SIO_000300: 5.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.745e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 5.992e1

DP
type: SiteQuality
SIO_000300: 1.686546e6

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

GenotypeQuality
all individuals: 1170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2894
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

DP
type: SiteQuality
SIO_000300: 1.686975e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

QD
type: SiteQuality
SIO_000300: 1.163e1

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9590
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4076
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variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3629
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1170
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

DP
type: SiteQuality
SIO_000300: 1.686756e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.1e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

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

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.776e0

DP
type: SiteQuality
SIO_000300: 1.686696e6

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.656e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.68e-1

DP
type: SiteQuality
SIO_000300: 1.687061e6

QD
type: SiteQuality
SIO_000300: 1.047e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.32e-1

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

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.51e-1

FS
type: SiteQuality
SIO_000300: 9.064e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.77e-2

QD
type: SiteQuality
SIO_000300: 1.297e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.68671e6

GenotypeQuality
all individuals: 1213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.924557351809084e-4
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.686718e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.831e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.225e1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 36

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 25
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variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.498830304120929e-4
allele num: 66684
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.689237e6

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.695e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

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

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 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: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 1.429e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.195e0

DP
type: SiteQuality
SIO_000300: 1.686752e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.504e0

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

FS
type: SiteQuality
SIO_000300: 2.329e0

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2895
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 16510
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

QD
type: SiteQuality
SIO_000300: 1.326e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.198e0

DP
type: SiteQuality
SIO_000300: 1.686579e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -8.707e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

FS
type: SiteQuality
SIO_000300: 7.267e0

DP
type: SiteQuality
SIO_000300: 1.686213e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.54e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 11574
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.857e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 3.234e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.976e0

VQSLOD
type: SiteQuality
SIO_000300: -1.823e0

DP
type: SiteQuality
SIO_000300: 1.686089e6

MQ
type: SiteQuality
SIO_000300: 5.887e1

GenotypeQuality
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variant carriers: 1

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.241e0

QD
type: SiteQuality
SIO_000300: 1.205e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 1.686025e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

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: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9540
bin: 6.75e1
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GenotypeQuality
all individuals: 146
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: -7.82e-1

MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.0e-4

BaseQRankSum
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ClippingRankSum
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SIO_000300: 3.02e-1

QD
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SIO_000300: 1.601e1

FS
type: SiteQuality
SIO_000300: 3.381e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 1.685987e6

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: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11574
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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SIO_000300: -7.34e-1

MQRankSum
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SIO_000300: -1.321e0

MQ
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SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.73e-1

VQSLOD
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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FS
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SIO_000300: 2.799e0

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: 7.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 8642
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.362e0

MQRankSum
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SIO_000300: -2.37e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.68411e6

BaseQRankSum
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SIO_000300: -5.279e0

ReadPosRankSum
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SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

ClippingRankSum
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SIO_000300: -1.47e0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 9.07e0

DP
type: SiteQuality
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.68e-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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
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East Asian
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allele frequency: 1.157407407407407e-4
allele num: 8640
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10374
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66624
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Other
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ClippingRankSum
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QD
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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East Asian
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South Asian
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European (Finnish)
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.00228173411793e-5
allele num: 66616
num of homozygotes: 0

MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Other
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

Latino
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num of homozygotes: 0

MQRankSum
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DP
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BaseQRankSum
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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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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

African
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: 906
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.909e1

MQRankSum
type: SiteQuality
SIO_000300: -5.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.343e0

VQSLOD
type: SiteQuality
SIO_000300: -8.457e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

DP
type: SiteQuality
SIO_000300: 1.682437e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.881e0

FS
type: SiteQuality
SIO_000300: 5.516e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
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SIO_000300: -4.589e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.62e-1

DP
type: SiteQuality
SIO_000300: 1.680007e6

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.518e1

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

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

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

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

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

South Asian
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allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 8.659000000000001e0

MQ
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SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.04e-2

MQRankSum
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SIO_000300: -3.08e-1

DP
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SIO_000300: 1.6747e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

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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variant carriers: 9

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

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

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

African
type: Population
allele count: 9
allele frequency: 8.693972179289026e-4
allele num: 10352
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.674945e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

QD
type: SiteQuality
SIO_000300: 1.457e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.674945e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

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

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.69e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10284
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 904
num of homozygotes: 0

East Asian
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allele frequency: 1.162790697674419e-4
allele num: 8600
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16472
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQ
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66410
num of homozygotes: 0

African
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South Asian
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num of homozygotes: 0

European (Finnish)
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Other
type: Population
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

South Asian
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African
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66422
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Latino
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.204928156158689e-4
allele num: 66394
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.721952167995334e-5
allele num: 10286
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 6.52e-1

ClippingRankSum
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BaseQRankSum
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SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 1.1e-3

DP
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SIO_000300: 1.676206e6

VQSLOD
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SIO_000300: 4.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 1.53e-1

QD
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SIO_000300: 1.33e1

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

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

European (Finnish)
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allele count: 1
allele frequency: 1.517911353976928e-4
allele num: 6588
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

VQSLOD
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InbreedingCoeff
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DP
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FS
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QD
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BaseQRankSum
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SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-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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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505434618974498e-5
allele num: 66426
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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VQSLOD
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QD
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MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.245e0

DP
type: SiteQuality
SIO_000300: 1.679179e6

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73550850399167e-4
allele num: 11524
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.245e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

DP
type: SiteQuality
SIO_000300: 1.679179e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515216278859757e-5
allele num: 66442
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.139e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

DP
type: SiteQuality
SIO_000300: 1.68045e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

FS
type: SiteQuality
SIO_000300: 5.346e0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.088e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 2.93e0

GenotypeQuality
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variant carriers: 12

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

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

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

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

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

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

South Asian
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allele count: 10
allele frequency: 6.067961165048543e-4
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00815209216978e-5
allele num: 66486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.686124e6

FS
type: SiteQuality
SIO_000300: 1.222e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.413e1

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

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
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Latino
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allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

DP
type: SiteQuality
SIO_000300: 1.686886e6

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.257e1

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: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.952714272839247e-4
allele num: 66574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

DP
type: SiteQuality
SIO_000300: 1.691676e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

FS
type: SiteQuality
SIO_000300: 1.229e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.071e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10350
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.50558692779046e-5
allele num: 66584
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.04e-1

FS
type: SiteQuality
SIO_000300: 4.411e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.692735e6

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.405e1

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 7
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 3039
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GenotypeQuality
all individuals: 9723
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000930288389401e-5
allele num: 66646
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.514e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.452e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

DP
type: SiteQuality
SIO_000300: 1.695597e6

FS
type: SiteQuality
SIO_000300: 3.059e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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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: 53
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000930288389401e-5
allele num: 66646
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.452e0

DP
type: SiteQuality
SIO_000300: 1.695597e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

FS
type: SiteQuality
SIO_000300: 3.059e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

QD
type: SiteQuality
SIO_000300: 1.514e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

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

GenotypeQuality
all individuals: 3860
bin: 9.75e1
variant carriers: 10

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9750
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349973000539989e-4
allele num: 66668
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 1.696772e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

QD
type: SiteQuality
SIO_000300: 1.42e1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 4.694e0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 1.697013e6

QD
type: SiteQuality
SIO_000300: 1.096e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.681e0

GenotypeQuality
all individuals: 739
bin: 8.75e1
variant carriers: 22

GenotypeQuality
all individuals: 26
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GenotypeQuality
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GenotypeQuality
all individuals: 34
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 25

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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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: 25673

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 698
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variant carriers: 21

GenotypeQuality
all individuals: 2299
bin: 7.25e1
variant carriers: 9

South Asian
type: Population
allele count: 5331
allele frequency: 3.231300763728937e-1
allele num: 16498
num of homozygotes: 937

African
type: Population
allele count: 977
allele frequency: 9.414145307380999e-2
allele num: 10378
num of homozygotes: 49

Other
type: Population
allele count: 209
allele frequency: 2.301762114537445e-1
allele num: 908
num of homozygotes: 28

Latino
type: Population
allele count: 1745
allele frequency: 1.511607761607762e-1
allele num: 11544
num of homozygotes: 147

European (Non-Finnish)
type: Population
allele count: 18364
allele frequency: 2.753801397594697e-1
allele num: 66686
num of homozygotes: 2594

East Asian
type: Population
allele count: 1489
allele frequency: 1.721785383903793e-1
allele num: 8648
num of homozygotes: 126

European (Finnish)
type: Population
allele count: 1857
allele frequency: 2.811932162325863e-1
allele num: 6604
num of homozygotes: 274

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.15796e6

QD
type: SiteQuality
SIO_000300: 1.71e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

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

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 34
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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: 26
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 698
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variant carriers: 0

GenotypeQuality
all individuals: 5456
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.15796e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 1.71e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 1863
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23712
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 856
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

DP
type: SiteQuality
SIO_000300: 2.888542e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.959e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.34e0