X-48758812-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048758812
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048758812
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 3452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.179+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.179+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.179+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.179+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.751+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.179+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.179+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.260+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.284+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.348+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.179+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.179+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365731
  ensembl transcript: ENST00000376548
  gene symbol: PQBP1
  hgvsc: ENST00000376548.5:c.196A>G
  hgvsp: ENSP00000365731.5:p.Met66Val
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.145+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.239+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.179+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.179+234A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000486150
  gene symbol: PQBP1
  hgvsc: ENST00000486150.1:n.760A>G
  variant of: http://identifiers.org/hgnc/9330
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met66Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

X-48758880-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048758880
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048758880
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 2247
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.179+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.179+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.179+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.179+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.179+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.145+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.260+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.348+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000486150
  gene symbol: PQBP1
  hgvsc: ENST00000486150.1:n.828C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.179+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.179+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.239+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.179+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.179+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.751+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.284+302C>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.179+302C>A
  variant of: http://identifiers.org/hgnc/9330
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

X-48759156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759156
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759156
    reference: chr 0
allele count: 2
allele frequency: 2.553723967976302e-5
allele num: 78317
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.180-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.180-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.349-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.180-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.285-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.180-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.261-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.240-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.180-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.180-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.180-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.752-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.146-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.180-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.180-51G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.180-51G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11470
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12797
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

X-48759179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759179
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759179
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 80891
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.180-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.180-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.180-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.240-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.349-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.180-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.180-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.261-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.752-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.180-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.285-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.146-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.180-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.180-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.180-28C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.180-28C>T
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

X-48759189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759189
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759189
    reference: chr 0
allele count: 2
allele frequency: 2.403066312614896e-5
allele num: 83227
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.752-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.285-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.180-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.240-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.261-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.180-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.180-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.180-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.180-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.146-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.180-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.349-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.180-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.180-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.180-18T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.180-18T>C
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

X-48759204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759204
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759204
    reference: chr 0
allele count: 53193
allele frequency: 6.123851626718243e-1
allele num: 86862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.349-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.180-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.180-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.261-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.180-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.752-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.285-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.146-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.180-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.240-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.180-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.180-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.180-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.180-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.180-3C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.180-3C>T
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 220
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 1402
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 6.25e1
  variant carriers: 2206
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 2.25e1
  variant carriers: 1819
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 4.25e1
  variant carriers: 3469
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 40
genotype quality: GenotypeQuality
hgvs: c.180-3C>T
num of homozygotes: 10022
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

X-48759207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759207
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759207
    reference: chr 0
allele count: 1
allele frequency: 1.143654433376411e-5
allele num: 87439
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.180C>T
  hgvsp: ENST00000376566.4:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.752C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.240C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.180C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.180C>T
  hgvsp: ENST00000247140.4:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.180C>T
  hgvsp: ENST00000447146.2:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.180C>T
  hgvsp: ENST00000443648.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.180C>T
  hgvsp: ENST00000396763.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.146C>T
  hgvsp: ENST00000456306.1:c.146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.261C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.349C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.180C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.180C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.180C>T
  hgvsp: ENST00000376563.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.180C>T
  hgvsp: ENST00000218224.4:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.285C>T
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.180C>T
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

X-48759268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759268
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759268
    reference: chr 0
allele count: 1
allele frequency: 1.139964889081416e-5
allele num: 87722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.346C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.241C>T
  hgvsp: ENSP00000247140.4:p.Pro81Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.241C>T
  hgvsp: ENSP00000379985.1:p.Pro81Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.241C>T
  hgvsp: ENSP00000365747.1:p.Pro81Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.241C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.241C>T
  hgvsp: ENSP00000218224.4:p.Pro81Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.241C>T
  hgvsp: ENSP00000414861.1:p.Pro81Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.301C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.241C>T
  hgvsp: ENSP00000391759.2:p.Pro81Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.241C>T
  hgvsp: ENSP00000365750.4:p.Pro81Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.813C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.241C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.207C>T
  hgvsp: ENSP00000393013.1:p.Pro70Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.241C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.410C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.322C>T
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro81Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

X-48759273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759273
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759273
    reference: chr 0
allele count: 2
allele frequency: 2.279929778162832e-5
allele num: 87722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.246C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.246C>T
  hgvsp: ENST00000396763.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.327C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.246C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.351C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.246C>T
  hgvsp: ENST00000247140.4:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.246C>T
  hgvsp: ENST00000376566.4:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.212C>T
  hgvsp: ENST00000456306.1:c.212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.415C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.246C>T
  hgvsp: ENST00000443648.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.246C>T
  hgvsp: ENST00000447146.2:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.246C>T
  hgvsp: ENST00000376563.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.818C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.306C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.246C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.246C>T
  hgvsp: ENST00000218224.4:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn82Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

X-48759275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759275
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759275
    reference: chr 0
allele count: 1
allele frequency: 1.140068860159154e-5
allele num: 87714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.248C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.248C>T
  hgvsp: ENSP00000365747.1:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.248C>T
  hgvsp: ENSP00000391759.2:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.248C>T
  hgvsp: ENSP00000218224.4:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.820C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.329C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.353C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.248C>T
  hgvsp: ENSP00000379985.1:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.248C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.248C>T
  hgvsp: ENSP00000414861.1:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.248C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.248C>T
  hgvsp: ENSP00000365750.4:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.308C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.248C>T
  hgvsp: ENSP00000247140.4:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.417C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.214C>T
  hgvsp: ENSP00000393013.1:p.Ser72Phe
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser83Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-48759276-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759276
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759276
    reference: chr 0
allele count: 2
allele frequency: 2.280085731223494e-5
allele num: 87716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.330C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.354C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.249C>T
  hgvsp: ENST00000396763.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.249C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.249C>T
  hgvsp: ENST00000247140.4:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.249C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.215C>T
  hgvsp: ENST00000456306.1:c.215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.249C>T
  hgvsp: ENST00000376566.4:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.249C>T
  hgvsp: ENST00000218224.4:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.821C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.249C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.249C>T
  hgvsp: ENST00000443648.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.249C>T
  hgvsp: ENST00000447146.2:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.418C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.309C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.249C>T
  hgvsp: ENST00000376563.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser83Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

X-48759276-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759276
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759276
    reference: chr 0
allele count: 5
allele frequency: 5.700214328058735e-5
allele num: 87716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.354C>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.249C>G
  hgvsp: ENST00000218224.4:c.249C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.330C>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.215C>G
  hgvsp: ENST00000456306.1:c.215C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.249C>G
  hgvsp: ENST00000396763.1:c.249C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.249C>G
  hgvsp: ENST00000376566.4:c.249C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.249C>G
  hgvsp: ENST00000443648.1:c.249C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.249C>G
  hgvsp: ENST00000247140.4:c.249C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.309C>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.249C>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.249C>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.821C>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.249C>G
  hgvsp: ENST00000447146.2:c.249C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.418C>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.249C>G
  hgvsp: ENST00000376563.1:c.249C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.249C>G
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser83Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

X-48759277-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759277
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759277
    reference: chr 0
allele count: 2
allele frequency: 2.280163715754791e-5
allele num: 87713
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.250G>A
  hgvsp: ENSP00000391759.2:p.Val84Met
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.822G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.310G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.250G>A
  hgvsp: ENSP00000247140.4:p.Val84Met
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.250G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.250G>A
  hgvsp: ENSP00000414861.1:p.Val84Met
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.331G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.250G>A
  hgvsp: ENSP00000365747.1:p.Val84Met
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.216G>A
  hgvsp: ENSP00000393013.1:p.Val73Met
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.250G>A
  hgvsp: ENSP00000218224.4:p.Val84Met
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.250G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.250G>A
  hgvsp: ENSP00000379985.1:p.Val84Met
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.250G>A
  hgvsp: ENSP00000365750.4:p.Val84Met
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.355G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.250G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.419G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val84Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

X-48759279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759279
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759279
    reference: chr 0
allele count: 1
allele frequency: 1.140068860159154e-5
allele num: 87714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.252G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.218G>A
  hgvsp: ENST00000456306.1:c.218G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.252G>A
  hgvsp: ENST00000396763.1:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.421G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.252G>A
  hgvsp: ENST00000443648.1:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.252G>A
  hgvsp: ENST00000376566.4:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.252G>A
  hgvsp: ENST00000247140.4:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.252G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.357G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.252G>A
  hgvsp: ENST00000376563.1:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.252G>A
  hgvsp: ENST00000447146.2:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.252G>A
  hgvsp: ENST00000218224.4:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.312G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.824G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.333G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.252G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val84Val
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-48759291-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759291
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759291
    reference: chr 0
allele count: 53
allele frequency: 6.044501214602602e-4
allele num: 87683
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.264G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.264G>A
  hgvsp: ENST00000396763.1:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.264G>A
  hgvsp: ENST00000376563.1:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.264G>A
  hgvsp: ENST00000443648.1:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.324G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.264G>A
  hgvsp: ENST00000247140.4:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.264G>A
  hgvsp: ENST00000376566.4:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.264G>A
  hgvsp: ENST00000218224.4:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.369G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.433G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.264G>A
  hgvsp: ENST00000447146.2:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.264G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.264G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.230G>A
  hgvsp: ENST00000456306.1:c.230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.836G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.345G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9444
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ser88Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

X-48759294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759294
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759294
    reference: chr 0
allele count: 9
allele frequency: 1.026518391787853e-4
allele num: 87675
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.267C>T
  hgvsp: ENST00000443648.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.372C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.267C>T
  hgvsp: ENST00000396763.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.267C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.267C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.436C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.267C>T
  hgvsp: ENST00000376563.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.233C>T
  hgvsp: ENST00000456306.1:c.233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.267C>T
  hgvsp: ENST00000218224.4:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.839C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.267C>T
  hgvsp: ENST00000376566.4:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.267C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.267C>T
  hgvsp: ENST00000247140.4:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.267C>T
  hgvsp: ENST00000447146.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.348C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.327C>T
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala89Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

X-48759296-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759296
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759296
    reference: chr 0
allele count: 1
allele frequency: 1.140953380644867e-5
allele num: 87646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.269A>G
  hgvsp: ENSP00000365750.4:p.Lys90Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.269A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.269A>G
  hgvsp: ENSP00000218224.4:p.Lys90Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.269A>G
  hgvsp: ENSP00000247140.4:p.Lys90Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.269A>G
  hgvsp: ENSP00000414861.1:p.Lys90Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.269A>G
  hgvsp: ENSP00000379985.1:p.Lys90Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.374A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.269A>G
  hgvsp: ENSP00000365747.1:p.Lys90Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.329A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.350A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.269A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.269A>G
  hgvsp: ENSP00000391759.2:p.Lys90Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.438A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.841A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.235A>G
  hgvsp: ENSP00000393013.1:p.Lys79Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.269A>G
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys90Arg
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

X-48759302-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759302
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759302
    reference: chr 0
allele count: 1
allele frequency: 1.141252867397829e-5
allele num: 87623
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.275T>C
  hgvsp: ENSP00000391759.2:p.Leu92Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.847T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.275T>C
  hgvsp: ENSP00000247140.4:p.Leu92Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.275T>C
  hgvsp: ENSP00000379985.1:p.Leu92Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.275T>C
  hgvsp: ENSP00000414861.1:p.Leu92Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.275T>C
  hgvsp: ENSP00000218224.4:p.Leu92Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.241T>C
  hgvsp: ENSP00000393013.1:p.Leu81Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.275T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.444T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.275T>C
  hgvsp: ENSP00000365747.1:p.Leu92Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.380T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.275T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.275T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.335T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.356T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.275T>C
  hgvsp: ENSP00000365750.4:p.Leu92Pro
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu92Pro
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

X-48759315-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759315
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759315
    reference: chr 0
allele count: 3
allele frequency: 3.429551300371535e-5
allele num: 87475
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.288T>C
  hgvsp: ENST00000218224.4:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.288T>C
  hgvsp: ENST00000376563.1:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.369T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.860T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.288T>C
  hgvsp: ENST00000396763.1:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.393T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.288T>C
  hgvsp: ENST00000247140.4:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.457T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.288T>C
  hgvsp: ENST00000443648.1:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.254T>C
  hgvsp: ENST00000456306.1:c.254T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.288T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.288T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.288T>C
  hgvsp: ENST00000447146.2:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.288T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.348T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.288T>C
  hgvsp: ENST00000376566.4:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn96Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-48759325-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759325
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759325
    reference: chr 0
allele count: 1
allele frequency: 1.14544913060411e-5
allele num: 87302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+6T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+6T>C
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.292+6T>C
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

X-48759325-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759325
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759325
    reference: chr 0
allele count: 3
allele frequency: 3.436347391812329e-5
allele num: 87302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+6T>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+6T>G
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12525
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.292+6T>G
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-48759332-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759332
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759332
    reference: chr 0
allele count: 1
allele frequency: 1.148250640149732e-5
allele num: 87089
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+13G>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+13G>T
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

X-48759337-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759337
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759337
    reference: chr 0
allele count: 1
allele frequency: 1.14957063536769e-5
allele num: 86989
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+18A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+18A>G
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum

X-48759340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759340
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759340
    reference: chr 0
allele count: 3
allele frequency: 3.453595192595492e-5
allele num: 86866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+21G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+21G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

X-48759342-G-GGAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759342
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759346
    reference: chr 0
allele count: 1
allele frequency: 1.151410477835348e-5
allele num: 86850
alternate allele: GGAGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+23_292+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+23_461+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+23_292+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+23_292+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+23_258+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+23_292+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+23_292+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+23_292+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+23_292+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+23_373+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+23_397+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+23_352+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+23_292+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+23_292+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+23_864+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+23_292+24insGAGA
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

X-48759343-C-CAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759343
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759382
    reference: chr 0
allele count: 1
allele frequency: 1.151980831038972e-5
allele num: 86807
alternate allele: CAAGAGTTGAGGATCCAAGGCAAGGACATCTGTGCTGACA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS

X-48759346-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759346
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759346
    reference: chr 0
allele count: 1
allele frequency: 1.152352527685269e-5
allele num: 86779
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+27T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+27T>C
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

X-48759347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759347
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759347
    reference: chr 0
allele count: 4
allele frequency: 4.611535756695374e-5
allele num: 86739
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+28G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+28G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7685
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

X-48759349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759349
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759349
    reference: chr 0
allele count: 3
allele frequency: 3.460487005871293e-5
allele num: 86693
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+30G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+30G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum

X-48759350-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759350
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759350
    reference: chr 0
allele count: 1
allele frequency: 1.153322722764284e-5
allele num: 86706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+31T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+31T>C
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

X-48759352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759352
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759352
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 86663
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+33A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+33A>G
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11528
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

X-48759368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759368
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759368
    reference: chr 0
allele count: 6
allele frequency: 7.000350017500875e-5
allele num: 85710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+49C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+49C>T
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

X-48759369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759369
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759369
    reference: chr 0
allele count: 2
allele frequency: 2.336721579623788e-5
allele num: 85590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.461+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.373+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.292+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.397+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.292+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.352+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.292+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.292+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.292+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.864+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.292+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.292+50G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.292+50G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

X-48759465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759465
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759465
    reference: chr 0
allele count: 1
allele frequency: 1.250093757031777e-5
allele num: 79994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+146G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.398-45G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.293-45G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.462-45G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.293-45G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.865-45G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.293-31G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.293-45G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.374-45G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.293-45G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+146G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+146G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.293-45G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.293-45G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.353-45G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.293-45G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

X-48759467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759467
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759467
    reference: chr 0
allele count: 1
allele frequency: 1.248081075346655e-5
allele num: 80123
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.293-29G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+148G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.374-43G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.293-43G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.293-43G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.293-43G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+148G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+148G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.293-43G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.865-43G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.462-43G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.398-43G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.293-43G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.293-43G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.293-43G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.353-43G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11196
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

X-48759478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759478
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759478
    reference: chr 0
allele count: 2
allele frequency: 2.475094362972588e-5
allele num: 80805
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.293-32G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.293-18G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.293-32G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+159G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.398-32G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+159G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.293-32G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+159G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.865-32G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.293-32G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.293-32G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.293-32G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.462-32G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.374-32G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.353-32G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.293-32G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

X-48759500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759500
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759500
    reference: chr 0
allele count: 2
allele frequency: 2.396845750991695e-5
allele num: 83443
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.293-10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.293-10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.293-10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.865-10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.293-10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.353-10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.374-10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+181G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.293-10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.293-10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.297G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.398-10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.293-10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+181G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+181G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.462-10G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

X-48759512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759512
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759512
    reference: chr 0
allele count: 1
allele frequency: 1.180066319727169e-5
allele num: 84741
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.867G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.309G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.295G>A
  hgvsp: ENSP00000414861.1:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+193G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.400G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.376G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.295G>A
  hgvsp: ENSP00000365747.1:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.295G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.295G>A
  hgvsp: ENSP00000218224.4:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.295G>A
  hgvsp: ENSP00000391759.2:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+193G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.295G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+193G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.355G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.295G>A
  hgvsp: ENSP00000379985.1:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.464G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala99Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

X-48759533-AGCCATGACAAGTCGGACAGGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759533
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759512
    reference: chr 0
allele count: 71
allele frequency: 8.277663134086484e-4
allele num: 85773
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsp: ENSP00000414861.1:p.Gly113_Arg119del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsp: ENSP00000365747.1:p.Gly113_Arg119del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsp: ENSP00000379985.1:p.Gly113_Arg119del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsp: ENSP00000218224.4:p.Gly113_Arg119del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsp: ENSP00000391759.2:p.Gly113_Arg119del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16768
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Gly113_Arg119del
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: AGCCATGACAAGTCGGACAGGG
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

X-48759534-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759534
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759534
    reference: chr 0
allele count: 3
allele frequency: 3.500869382563337e-5
allele num: 85693
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.422G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.317G>A
  hgvsp: ENSP00000365747.1:p.Ser106Asn
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.317G>A
  hgvsp: ENSP00000391759.2:p.Ser106Asn
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+215G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+215G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.317G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.331G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.317G>A
  hgvsp: ENSP00000379985.1:p.Ser106Asn
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.317G>A
  hgvsp: ENSP00000218224.4:p.Ser106Asn
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.317G>A
  hgvsp: ENSP00000414861.1:p.Ser106Asn
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+215G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.486G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.398G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.317G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.377G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.889G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser106Asn
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

X-48759546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759546
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759546
    reference: chr 0
allele count: 2
allele frequency: 2.33530277200439e-5
allele num: 85642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.410C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.389C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.329C>T
  hgvsp: ENSP00000379985.1:p.Ser110Leu
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.329C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.329C>T
  hgvsp: ENSP00000365747.1:p.Ser110Leu
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.329C>T
  hgvsp: ENSP00000218224.4:p.Ser110Leu
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.343C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+227C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.434C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.498C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.329C>T
  hgvsp: ENSP00000414861.1:p.Ser110Leu
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.329C>T
  hgvsp: ENSP00000391759.2:p.Ser110Leu
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+227C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.901C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+227C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.329C>T
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser110Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

X-48759547-GGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759547
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759505
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 85658
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsp: ENSP00000218224.4:p.Ser120_Arg133del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsp: ENSP00000379985.1:p.Ser120_Arg133del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsp: ENSP00000414861.1:p.Ser120_Arg133del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsp: ENSP00000391759.2:p.Ser120_Arg133del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsp: ENSP00000365747.1:p.Ser120_Arg133del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser120_Arg133del
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: GGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTA
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

X-48759568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759568
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759568
    reference: chr 0
allele count: 1
allele frequency: 1.177107611177814e-5
allele num: 84954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.365G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.351G>A
  hgvsp: ENST00000443648.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.351G>A
  hgvsp: ENST00000376563.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+249G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.432G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.351G>A
  hgvsp: ENST00000447146.2:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.456G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.520G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.351G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.351G>A
  hgvsp: ENST00000218224.4:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+249G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.411G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.351G>A
  hgvsp: ENST00000396763.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.923G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+249G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.351G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser117Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

X-48759573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759573
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759573
    reference: chr 0
allele count: 2
allele frequency: 2.371916508538899e-5
allele num: 84320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.370G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.356G>A
  hgvsp: ENSP00000391759.2:p.Arg119His
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.416G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.356G>A
  hgvsp: ENSP00000218224.4:p.Arg119His
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.356G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.356G>A
  hgvsp: ENSP00000414861.1:p.Arg119His
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.356G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.461G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.356G>A
  hgvsp: ENSP00000379985.1:p.Arg119His
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.356G>A
  hgvsp: ENSP00000365747.1:p.Arg119His
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+254G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.525G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.928G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.437G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+254G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+254G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg119His
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

X-48759588-TAGACAGGGGCCACGACAAGTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759588
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759567
    reference: chr 0
allele count: 3
allele frequency: 3.599798411288968e-5
allele num: 83338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsp: ENSP00000365747.1:p.Gly134_Arg140del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsp: ENSP00000414861.1:p.Gly134_Arg140del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsp: ENSP00000218224.4:p.Gly134_Arg140del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsp: ENSP00000391759.2:p.Gly134_Arg140del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsp: ENSP00000379985.1:p.Gly134_Arg140del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly134_Arg140del
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: TAGACAGGGGCCACGACAAGTC
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

X-48759589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759589
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759589
    reference: chr 0
allele count: 1
allele frequency: 1.201663101732798e-5
allele num: 83218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.372A>G
  hgvsp: ENST00000447146.2:c.372A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+270A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.453A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.372A>G
  hgvsp: ENST00000218224.4:c.372A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.372A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.372A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.372A>G
  hgvsp: ENST00000376563.1:c.372A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.372A>G
  hgvsp: ENST00000443648.1:c.372A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.477A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.944A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.541A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.372A>G
  hgvsp: ENST00000396763.1:c.372A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+270A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+270A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.432A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.386A>G
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu124Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

X-48759592-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759592
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759592
    reference: chr 0
allele count: 1
allele frequency: 1.208970561566826e-5
allele num: 82715
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+273C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.375C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.375C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.480C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.544C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.375C>T
  hgvsp: ENST00000376563.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.456C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.375C>T
  hgvsp: ENST00000447146.2:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.375C>T
  hgvsp: ENST00000218224.4:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.435C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.375C>T
  hgvsp: ENST00000396763.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.389C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+273C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.947C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.375C>T
  hgvsp: ENST00000443648.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+273C>T
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21299
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp125Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

X-48759593-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759593
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759593
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 82525
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.457A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.436A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.376A>G
  hgvsp: ENSP00000365747.1:p.Arg126Gly
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.545A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+274A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.376A>G
  hgvsp: ENSP00000218224.4:p.Arg126Gly
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.376A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.376A>G
  hgvsp: ENSP00000379985.1:p.Arg126Gly
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.376A>G
  hgvsp: ENSP00000414861.1:p.Arg126Gly
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.376A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.948A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.376A>G
  hgvsp: ENSP00000391759.2:p.Arg126Gly
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+274A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.390A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+274A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.481A>G
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg126Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

X-48759593-AGGGGCCACGACAAGTCAGACC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759593
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759572
    reference: chr 0
allele count: 18
allele frequency: 2.181157225083308e-4
allele num: 82525
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsp: ENSP00000365747.1:p.Gly134_Arg140del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsp: ENSP00000414861.1:p.Gly134_Arg140del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsp: ENSP00000218224.4:p.Gly134_Arg140del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsp: ENSP00000391759.2:p.Gly134_Arg140del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsp: ENSP00000379985.1:p.Gly134_Arg140del
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16223
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly134_Arg140del
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AGGGGCCACGACAAGTCAGACC
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

X-48759596-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759596
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759596
    reference: chr 0
allele count: 1
allele frequency: 1.216841080554879e-5
allele num: 82180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.379G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.379G>A
  hgvsp: ENSP00000414861.1:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.460G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.548G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.379G>A
  hgvsp: ENSP00000365747.1:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.393G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.379G>A
  hgvsp: ENSP00000379985.1:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.379G>A
  hgvsp: ENSP00000391759.2:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.484G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+277G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.951G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.379G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+277G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.379G>A
  hgvsp: ENSP00000218224.4:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+277G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.439G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly127Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

X-48759601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759601
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759601
    reference: chr 0
allele count: 3
allele frequency: 3.685775364277465e-5
allele num: 81394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.398C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.384C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+282C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.384C>T
  hgvsp: ENST00000376563.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.384C>T
  hgvsp: ENST00000396763.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.553C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.444C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.384C>T
  hgvsp: ENST00000447146.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+282C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.384C>T
  hgvsp: ENST00000218224.4:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.465C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.384C>T
  hgvsp: ENST00000443648.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.384C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.956C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.489C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+282C>T
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18805
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His128His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

X-48759608-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759608
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759608
    reference: chr 0
allele count: 3
allele frequency: 3.730600875447672e-5
allele num: 80416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.560T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.472T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.391T>C
  hgvsp: ENSP00000414861.1:p.Ser131Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.391T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.391T>C
  hgvsp: ENSP00000391759.2:p.Ser131Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.391T>C
  hgvsp: ENSP00000365747.1:p.Ser131Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.391T>C
  hgvsp: ENSP00000379985.1:p.Ser131Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.391T>C
  hgvsp: ENSP00000218224.4:p.Ser131Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+289T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.391T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.963T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.496T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.451T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.405T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+289T>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+289T>C
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser131Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

X-48759614-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759614
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759614
    reference: chr 0
allele count: 2
allele frequency: 2.525284410156694e-5
allele num: 79199
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.411C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.397C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.969C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.457C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.397C>T
  hgvsp: ENSP00000391759.2:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.566C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.397C>T
  hgvsp: ENSP00000379985.1:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.397C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.397C>T
  hgvsp: ENSP00000218224.4:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+295C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.397C>T
  hgvsp: ENSP00000365747.1:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.502C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+295C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+295C>T
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.397C>T
  hgvsp: ENSP00000414861.1:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.478C>T
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg133Trp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

X-48759615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759615
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759615
    reference: chr 0
allele count: 1
allele frequency: 1.261352169525732e-5
allele num: 79280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.458G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+296G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.398G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.970G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.567G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.398G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+296G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+296G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.503G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.398G>A
  hgvsp: ENSP00000365747.1:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.398G>A
  hgvsp: ENSP00000414861.1:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.479G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.398G>A
  hgvsp: ENSP00000218224.4:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.398G>A
  hgvsp: ENSP00000379985.1:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.412G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.398G>A
  hgvsp: ENSP00000391759.2:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15968
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg133Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

X-48759617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759617
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759617
    reference: chr 0
allele count: 1
allele frequency: 1.264318405947354e-5
allele num: 79094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.400G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+298G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.505G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+298G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.400G>A
  hgvsp: ENSP00000379985.1:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.569G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.400G>A
  hgvsp: ENSP00000218224.4:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.400G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.972G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.400G>A
  hgvsp: ENSP00000365747.1:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.481G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.400G>A
  hgvsp: ENSP00000414861.1:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.414G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.400G>A
  hgvsp: ENSP00000391759.2:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.460G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+298G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly134Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

X-48759627-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759627
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759627
    reference: chr 0
allele count: 1
allele frequency: 1.279983616209712e-5
allele num: 78126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.410A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+308A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.410A>G
  hgvsp: ENSP00000414861.1:p.Lys137Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.470A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.410A>G
  hgvsp: ENSP00000391759.2:p.Lys137Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.491A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.579A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.515A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.410A>G
  hgvsp: ENSP00000379985.1:p.Lys137Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+308A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.410A>G
  hgvsp: ENSP00000218224.4:p.Lys137Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.410A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.410A>G
  hgvsp: ENSP00000365747.1:p.Lys137Arg
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.982A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.424A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+308A>G
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys137Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-48759633-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759633
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759633
    reference: chr 0
allele count: 1
allele frequency: 1.299207483435105e-5
allele num: 76970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+314A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.416A>G
  hgvsp: ENSP00000391759.2:p.Asp139Gly
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.430A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+314A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+314A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.521A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.416A>G
  hgvsp: ENSP00000365747.1:p.Asp139Gly
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.416A>G
  hgvsp: ENSP00000414861.1:p.Asp139Gly
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.416A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.988A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.416A>G
  hgvsp: ENSP00000218224.4:p.Asp139Gly
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.585A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.497A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.476A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.416A>G
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.416A>G
  hgvsp: ENSP00000379985.1:p.Asp139Gly
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp139Gly
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

X-48759642-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759642
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759642
    reference: chr 0
allele count: 1
allele frequency: 1.329592745741979e-5
allele num: 75211
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.485G>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.425G>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.506G>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+323G>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+323G>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.425G>C
  hgvsp: ENSP00000218224.4:p.Arg142Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.997G>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.425G>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.594G>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.439G>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.425G>C
  hgvsp: ENSP00000414861.1:p.Arg142Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.425G>C
  hgvsp: ENSP00000365747.1:p.Arg142Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.425G>C
  hgvsp: ENSP00000391759.2:p.Arg142Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.425G>C
  hgvsp: ENSP00000379985.1:p.Arg142Pro
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+323G>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.530G>C
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg142Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

X-48759651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759651
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759651
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 73891
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.258+332G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.434G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.539G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.434G>A
  hgvsp: ENSP00000379985.1:p.Gly145Asp
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.434G>A
  hgvsp: ENSP00000365747.1:p.Gly145Asp
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.448G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.292+332G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.494G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.434G>A
  hgvsp: ENSP00000414861.1:p.Gly145Asp
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.434G>A
  hgvsp: ENSP00000391759.2:p.Gly145Asp
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.434G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.515G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.434G>A
  hgvsp: ENSP00000218224.4:p.Gly145Asp
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.1006G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.603G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.292+332G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10772
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly145Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

X-48759667-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759667
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759665
    reference: chr 0
allele count: 90
allele frequency: 1.374822418770909e-3
allele num: 65463
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.461_462delAG
  hgvsp: ENSP00000218224.4:p.Glu154AlafsTer12
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.1033_1034delAG
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.475_476delAG
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.259-331_259-330delAG
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.461_462delAG
  hgvsp: ENSP00000391759.2:p.Glu154AlafsTer12
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.461_462delAG
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.461_462delAG
  hgvsp: ENSP00000379985.1:p.Glu154AlafsTer12
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.521_522delAG
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.461_462delAG
  hgvsp: ENSP00000365747.1:p.Glu154AlafsTer12
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.461_462delAG
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.549+17_549+18delAG
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.293-331_293-330delAG
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.461_462delAG
  hgvsp: ENSP00000414861.1:p.Glu154AlafsTer12
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.613+17_613+18delAG
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.542_543delAG
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.293-331_293-330delAG
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10333
  bin: 2.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Glu154AlafsTer12
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: CAG
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

X-48759671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759671
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759671
    reference: chr 0
allele count: 1
allele frequency: 1.422717960391532e-5
allele num: 70288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.613+10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.293-338G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.535G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.454G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.1026G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.454G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.454G>A
  hgvsp: ENSP00000391759.2:p.Glu152Lys
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.514G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.454G>A
  hgvsp: ENSP00000414861.1:p.Glu152Lys
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.454G>A
  hgvsp: ENSP00000379985.1:p.Glu152Lys
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.454G>A
  hgvsp: ENSP00000218224.4:p.Glu152Lys
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.454G>A
  hgvsp: ENSP00000365747.1:p.Glu152Lys
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.293-338G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.549+10G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.259-338G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.468G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu152Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

X-48759675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759675
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759675
    reference: chr 0
allele count: 1
allele frequency: 1.423365975859713e-5
allele num: 70256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.549+14G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.458G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.613+14G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.293-334G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.458G>A
  hgvsp: ENSP00000391759.2:p.Arg153Lys
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.458G>A
  hgvsp: ENSP00000365747.1:p.Arg153Lys
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.293-334G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.458G>A
  hgvsp: ENSP00000379985.1:p.Arg153Lys
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.472G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.539G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.458G>A
  hgvsp: ENSP00000414861.1:p.Arg153Lys
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.458G>A
  hgvsp: ENSP00000218224.4:p.Arg153Lys
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.518G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.259-334G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.458G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.1030G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg153Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

X-48759676-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759676
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759676
    reference: chr 0
allele count: 2
allele frequency: 2.857551078725532e-5
allele num: 69990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.459A>C
  hgvsp: ENSP00000218224.4:p.Arg153Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.519A>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.459A>C
  hgvsp: ENSP00000391759.2:p.Arg153Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.473A>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.549+15A>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.1031A>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.259-333A>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.459A>C
  hgvsp: ENSP00000365747.1:p.Arg153Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.459A>C
  hgvsp: ENSP00000379985.1:p.Arg153Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.459A>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.540A>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.459A>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.293-333A>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.459A>C
  hgvsp: ENSP00000414861.1:p.Arg153Ser
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.613+15A>C
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.293-333A>C
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg153Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

X-48759683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24048759683
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24048759683
    reference: chr 0
allele count: 1
allele frequency: 1.447471267695336e-5
allele num: 69086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365750
  ensembl transcript: ENST00000376566
  gene symbol: PQBP1
  hgvsc: ENST00000376566.4:c.293-326G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470062
  gene symbol: PQBP1
  hgvsc: ENST00000470062.1:n.549+22G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000474671
  gene symbol: PQBP1
  hgvsc: ENST00000474671.1:n.526G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000379985
  ensembl transcript: ENST00000396763
  gene symbol: PQBP1
  hgvsc: ENST00000396763.1:c.466G>A
  hgvsp: ENSP00000379985.1:p.Asp156Asn
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000473764
  gene symbol: PQBP1
  hgvsc: ENST00000473764.1:n.1038G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000470059
  gene symbol: PQBP1
  hgvsc: ENST00000470059.1:n.466G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000472742
  gene symbol: PQBP1
  hgvsc: ENST00000472742.1:n.613+22G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000391759
  ensembl transcript: ENST00000447146
  gene symbol: PQBP1
  hgvsc: ENST00000447146.2:c.466G>A
  hgvsp: ENSP00000391759.2:p.Asp156Asn
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000218224
  ensembl transcript: ENST00000218224
  gene symbol: PQBP1
  hgvsc: ENST00000218224.4:c.466G>A
  hgvsp: ENSP00000218224.4:p.Asp156Asn
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000414861
  ensembl transcript: ENST00000443648
  gene symbol: PQBP1
  hgvsc: ENST00000443648.1:c.466G>A
  hgvsp: ENSP00000414861.1:p.Asp156Asn
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000477997
  gene symbol: PQBP1
  hgvsc: ENST00000477997.1:n.547G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000365747
  ensembl transcript: ENST00000376563
  gene symbol: PQBP1
  hgvsc: ENST00000376563.1:c.466G>A
  hgvsp: ENSP00000365747.1:p.Asp156Asn
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000247140
  ensembl transcript: ENST00000247140
  gene symbol: PQBP1
  hgvsc: ENST00000247140.4:c.293-326G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000463529
  gene symbol: PQBP1
  hgvsc: ENST00000463529.1:n.466G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102103
  ensembl transcript: ENST00000465859
  gene symbol: PQBP1
  hgvsc: ENST00000465859.1:n.480G>A
  variant of: http://identifiers.org/hgnc/9330
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102103
  ensembl protein: ENSP00000393013
  ensembl transcript: ENST00000456306
  gene symbol: PQBP1
  hgvsc: ENST00000456306.1:c.259-326G>A
  variant of: http://identifiers.org/hgnc/9330
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp156Asn
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 961
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3251
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 199
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 183
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1893
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
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1242
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -5.2e-2

FS
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QD
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MQ
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DP
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VQSLOD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 99
num of homozygotes: 0

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

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
allele num: 858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

QD
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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DP
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GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8911
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.690321521540302e-5
allele num: 42641
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8635
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3968
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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QD
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DP
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 7.6e-3

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44156
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8880
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.651e-1

BaseQRankSum
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FS
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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SIO_000300: 1.67e-1

ClippingRankSum
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SIO_000300: 3.58e-1

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 4246
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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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 count: 2
allele frequency: 4.393962695256717e-5
allele num: 45517
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: 9.21e-1

FS
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MQ
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SIO_000300: 6.0e1

VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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DP
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SIO_000300: 1.723574e6

QD
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BaseQRankSum
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SIO_000300: 2.15e0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 3634

GenotypeDepth
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variant carriers: 3288

GenotypeDepth
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variant carriers: 2877

GenotypeDepth
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variant carriers: 1981

GenotypeDepth
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variant carriers: 3195

GenotypeDepth
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variant carriers: 859

GenotypeDepth
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GenotypeDepth
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variant carriers: 1850

GenotypeDepth
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variant carriers: 2516

GenotypeDepth
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variant carriers: 6828

GenotypeDepth
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variant carriers: 1704

GenotypeDepth
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variant carriers: 2776

GenotypeDepth
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variant carriers: 1285

GenotypeQuality
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variant carriers: 1094

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 574

GenotypeQuality
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GenotypeQuality
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variant carriers: 1129

GenotypeQuality
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GenotypeQuality
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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: 128

GenotypeQuality
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variant carriers: 331

South Asian
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allele count: 7385
allele frequency: 7.350452871503932e-1
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num of homozygotes: 1021

East Asian
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allele count: 4978
allele frequency: 7.552723410711576e-1
allele num: 6591
num of homozygotes: 1323

African
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allele count: 4561
allele frequency: 5.410438908659549e-1
allele num: 8430
num of homozygotes: 980

European (Finnish)
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allele count: 2597
allele frequency: 5.816349384098545e-1
allele num: 4465
num of homozygotes: 431

European (Non-Finnish)
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allele count: 28465
allele frequency: 5.996039854232933e-1
allele num: 47473
num of homozygotes: 5244

Latino
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allele count: 4821
allele frequency: 5.226016260162601e-1
allele num: 9225
num of homozygotes: 956

Other
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allele count: 386
allele frequency: 6.117274167987322e-1
allele num: 631
num of homozygotes: 67

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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FS
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ReadPosRankSum
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DP
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SIO_000300: 3.265602e6

VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 632
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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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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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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DP
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BaseQRankSum
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MQ
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QD
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 5.689747718733226e-3
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South Asian
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num of homozygotes: 0

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

European (Finnish)
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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 count: 0
allele frequency: 0.0e0
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MQ
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SIO_000300: 5.973e1

InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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QD
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DP
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.536484734174231e-4
allele num: 8483
num of homozygotes: 0

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

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

East Asian
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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

DP
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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MQ
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QD
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ClippingRankSum
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SIO_000300: -3.03e-1

ReadPosRankSum
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SIO_000300: 1.94e-1

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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: 9.937394415184339e-5
allele num: 10063
num of homozygotes: 0

Other
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num of homozygotes: 0

MQRankSum
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DP
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FS
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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SIO_000300: -1.382e0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 3
allele frequency: 3.232410300614158e-4
allele num: 9281
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

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 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: 4502
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47740
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -7.18e-1

VQSLOD
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SIO_000300: -1.382e0

BaseQRankSum
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SIO_000300: 8.54e-1

DP
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InbreedingCoeff
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SIO_000300: 9.0e-2

QD
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ClippingRankSum
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SIO_000300: 4.2e-2

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10027
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9263
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4487
num of homozygotes: 0

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

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

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: 1
allele frequency: 2.099693444757066e-5
allele num: 47626
num of homozygotes: 0

MQ
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QD
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

Latino
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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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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 47546
num of homozygotes: 0

South Asian
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allele num: 10022
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European (Finnish)
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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DP
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FS
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6590
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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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
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Latino
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European (Non-Finnish)
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allele frequency: 6.317784563546383e-5
allele num: 47485
num of homozygotes: 0

Other
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ClippingRankSum
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SIO_000300: 6.4e-1

MQ
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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SIO_000300: 1.06e0

DP
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FS
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VQSLOD
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

Latino
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Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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DP
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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African
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Latino
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East Asian
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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South Asian
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Other
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MQ
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Latino
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European (Finnish)
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South Asian
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 2.210555e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6573
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8415
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47353
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9991
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.14e-2

MQRankSum
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ReadPosRankSum
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SIO_000300: 4.33e-1

MQ
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SIO_000300: 5.855e1

VQSLOD
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BaseQRankSum
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SIO_000300: 4.8e-2

QD
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SIO_000300: 2.648e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 617
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.182453077258839e-4
allele num: 9164
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.595828838547285e-4
allele num: 8343
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.136615174240968e-5
allele num: 46803
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9875
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.644e1

ClippingRankSum
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SIO_000300: -5.09e-1

ReadPosRankSum
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SIO_000300: 5.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 3.422e0

DP
type: SiteQuality
SIO_000300: 2.135037e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.092299290005461e-4
allele num: 9155
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46731
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.012965964343598e-4
allele num: 9872
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6455
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4429
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 2.1335e6

QD
type: SiteQuality
SIO_000300: 1.241e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9181
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6123
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.284878672942467e-5
allele num: 43766
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

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

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -1.767e0

BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

QD
type: SiteQuality
SIO_000300: 1.59e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43835
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3828
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 558
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East Asian
type: Population
allele count: 1
allele frequency: 1.633186346562143e-4
allele num: 6123
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.365902e6

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3897
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.261471313236392e-5
allele num: 44219
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.142204454597373e-4
allele num: 8755
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6187
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VQSLOD
type: SiteQuality
SIO_000300: -2.249e0

DP
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SIO_000300: 1.420487e6

ReadPosRankSum
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SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.324e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

GenotypeDepth
all individuals: 14801
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4093
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6445
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.185601258906325e-5
allele num: 45754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.22955858846674e-4
allele num: 8133
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9463
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.635e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.206e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.577e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.543228e6

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 2.049e1

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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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: 1

GenotypeQuality
all individuals: 770
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4092
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46514
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.531628120692296e-4
allele num: 6529
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9113
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8225
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4170
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.616e1

QD
type: SiteQuality
SIO_000300: 2.488e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.204e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

DP
type: SiteQuality
SIO_000300: 1.584481e6

GenotypeDepth
all individuals: 1017
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 387
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variant carriers: 15

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 412
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variant carriers: 4

GenotypeQuality
all individuals: 4112
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variant carriers: 59

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 92
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variant carriers: 2

GenotypeQuality
all individuals: 340
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 1

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: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 776
bin: 8.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.642036124794745e-3
allele num: 609
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.20496445354862e-4
allele num: 8299
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.611565507424954e-4
allele num: 47071
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.177463255307567e-4
allele num: 9185
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4274
num of homozygotes: 0

South Asian
type: Population
allele count: 50
allele frequency: 5.135051864023826e-3
allele num: 9737
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

QD
type: SiteQuality
SIO_000300: 3.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

FS
type: SiteQuality
SIO_000300: 1.815e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.934e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.449e1

MQRankSum
type: SiteQuality
SIO_000300: -2.093e0

DP
type: SiteQuality
SIO_000300: 1.61585e6

GenotypeDepth
all individuals: 1351
bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4053
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47053
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4277
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.102057698273188e-4
allele num: 9671
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-2

BaseQRankSum
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SIO_000300: 6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.198e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 2.912e1

DP
type: SiteQuality
SIO_000300: 1.611938e6

GenotypeDepth
all individuals: 29327
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 705
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 1
allele frequency: 2.12630236019562e-5
allele num: 47030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4265
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.515381118351265e-4
allele num: 6599
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 609
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9185
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.610675e6

FS
type: SiteQuality
SIO_000300: 3.569e0

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

BaseQRankSum
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SIO_000300: -1.76e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2724
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4267
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6599
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9671
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: 609
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47037
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.61132e6

MQ
type: SiteQuality
SIO_000300: 5.914e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.355e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
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FS
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MQRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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South Asian
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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South Asian
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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South Asian
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ClippingRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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East Asian
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Latino
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Other
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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Other
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Latino
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East Asian
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MQRankSum
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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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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Latino
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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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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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SIO_000300: -2.06e-1

DP
type: SiteQuality
SIO_000300: 1.512568e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

QD
type: SiteQuality
SIO_000300: 3.03e0

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

MQ
type: SiteQuality
SIO_000300: 5.402e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeQuality
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variant carriers: 18

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

GenotypeQuality
all individuals: 465
bin: 9.25e1
variant carriers: 0

Latino
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allele count: 2
allele frequency: 2.259121201852479e-4
allele num: 8853
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 575
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.606524962926347e-3
allele num: 8092
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.133322888923704e-4
allele num: 6383
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3941
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.202303609575616e-5
allele num: 45407
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.664e0

BaseQRankSum
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SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.03e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

ClippingRankSum
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SIO_000300: -2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.402e1

DP
type: SiteQuality
SIO_000300: 1.512568e6

MQRankSum
type: SiteQuality
SIO_000300: -2.718e0

QD
type: SiteQuality
SIO_000300: 3.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9241
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 573
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8829
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6357
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.211900022119e-5
allele num: 45210
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.419e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.119e0

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

FS
type: SiteQuality
SIO_000300: 5.756e0

DP
type: SiteQuality
SIO_000300: 1.501374e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.234137622877569e-5
allele num: 44760
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.249687578105474e-4
allele num: 8002
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.093613298337708e-4
allele num: 9144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3866
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.480383e6

QD
type: SiteQuality
SIO_000300: 2.917e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

GenotypeDepth
all individuals: 215
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

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

South Asian
type: Population
allele count: 3
allele frequency: 3.325205054311683e-4
allele num: 9022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8605
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44239
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3809
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
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: 562
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

ClippingRankSum
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SIO_000300: 6.929999999999999e-1

MQRankSum
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SIO_000300: 1.19e-1

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

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.785714285714286e-3
allele num: 560
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6135
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.183992422448496e-4
allele num: 8446
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8910
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.42446e6

QD
type: SiteQuality
SIO_000300: 1.86e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8897
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43654
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.270163851136797e-4
allele num: 7873
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 557
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 3.48e0

ClippingRankSum
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SIO_000300: -1.24e-1

BaseQRankSum
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SIO_000300: -7.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

FS
type: SiteQuality
SIO_000300: 7.929e0

MQRankSum
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SIO_000300: -2.186e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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SIO_000300: 1.422081e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

VQSLOD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43530
num of homozygotes: 0

African
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allele frequency: 1.26806999746386e-4
allele num: 7886
num of homozygotes: 0

Latino
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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
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

MQRankSum
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SIO_000300: 3.17e-1

DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
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MQ
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SIO_000300: 5.889e1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6063
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.3263929277655e-5
allele num: 42985
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7847
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 545
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3613
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.113e1

VQSLOD
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MQRankSum
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SIO_000300: 3.65e-1

DP
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FS
type: SiteQuality
SIO_000300: 3.188e0

InbreedingCoeff
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SIO_000300: -1.8e-3

MQ
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SIO_000300: 5.84e1

ClippingRankSum
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SIO_000300: -7.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
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SIO_000300: 3.61e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 533
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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.359436566547909e-5
allele num: 42383
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3516
num of homozygotes: 0

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

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.360966e6

InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7886
num of homozygotes: 0

East Asian
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allele frequency: 1.713796058269066e-4
allele num: 5835
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 41412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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DP
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MQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.955e1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 40699
num of homozygotes: 0

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

East Asian
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Other
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South Asian
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 19

South Asian
type: Population
allele count: 3
allele frequency: 3.909304143862392e-4
allele num: 7674
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 3.32120828720544e-3
allele num: 6323
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 49
allele frequency: 1.362776727110913e-3
allele num: 35956
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.727364329926587e-3
allele num: 6947
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 9.740892265731541e-4
allele num: 5133
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

FS
type: SiteQuality
SIO_000300: 1.727e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

DP
type: SiteQuality
SIO_000300: 1.28283e6

GenotypeDepth
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1719
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 153
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 1058
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 318
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3386
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2933
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17313
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2318
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3799
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 975
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.577851103320272e-5
allele num: 38792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5502
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.111e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.832e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.235996e6

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

GenotypeDepth
all individuals: 13462
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 885
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2703
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1709
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10043
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 728
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11040
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17938
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3044
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
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variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3801
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 388
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 487
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38759
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3055
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.251721116535236e-4
allele num: 7989
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

DP
type: SiteQuality
SIO_000300: 1.236428e6

VQSLOD
type: SiteQuality
SIO_000300: -1.346e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.184e1

GenotypeDepth
all individuals: 11079
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10382
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 318
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variant carriers: 0

GenotypeDepth
all individuals: 13564
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variant carriers: 0

GenotypeDepth
all individuals: 179
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variant carriers: 0

GenotypeDepth
all individuals: 9872
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2692
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 885
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variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1974
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variant carriers: 0

GenotypeQuality
all individuals: 3044
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
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variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
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variant carriers: 0

GenotypeQuality
all individuals: 17667
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2906
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variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
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variant carriers: 0

GenotypeQuality
all individuals: 3208
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variant carriers: 0

GenotypeQuality
all individuals: 3800
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variant carriers: 2

GenotypeQuality
all individuals: 490
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variant carriers: 0

GenotypeQuality
all individuals: 614
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variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.58765687669815e-5
allele num: 38645
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 481
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7059
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.818843215714805e-4
allele num: 5498
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3031
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

FS
type: SiteQuality
SIO_000300: 7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

DP
type: SiteQuality
SIO_000300: 1.232671e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

GenotypeDepth
all individuals: 5041
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 878
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variant carriers: 0

GenotypeDepth
all individuals: 224
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variant carriers: 0

GenotypeDepth
all individuals: 146
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variant carriers: 0

GenotypeDepth
all individuals: 179
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variant carriers: 0

GenotypeDepth
all individuals: 153
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variant carriers: 0

GenotypeDepth
all individuals: 361
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variant carriers: 0

GenotypeDepth
all individuals: 2612
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variant carriers: 0

GenotypeDepth
all individuals: 318
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variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
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variant carriers: 0

GenotypeQuality
all individuals: 978
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variant carriers: 0

GenotypeQuality
all individuals: 2092
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variant carriers: 0

GenotypeQuality
all individuals: 566
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GenotypeQuality
all individuals: 784
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variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 4.25e1
variant carriers: 0