19-7709673-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709673
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709673
    reference: chr 19
allele count: 1
allele frequency: 8.446802040747373e-6
allele num: 118388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+35A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+35A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1165+35A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+35A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+35A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+35A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+35A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+35A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+35A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+35A>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

19-7709682-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709682
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709683
    reference: chr 19
allele count: 1
allele frequency: 8.488964346349745e-6
allele num: 117800
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+45dupG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+45dupG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+45dupG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+45dupG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1165+45dupG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+45dupG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+45dupG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+45dupG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+45dupG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+45dupG
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

19-7709682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709682
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709682
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 117800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+44C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+44C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+44C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+44C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+44C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+44C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+44C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1165+44C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+44C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+44C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

19-7709683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709683
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709683
    reference: chr 19
allele count: 8
allele frequency: 6.785526472035149e-5
allele num: 117898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+45G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+45G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+45G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+45G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+45G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+45G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+45G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+45G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+45G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1165+45G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12666
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

19-7709684-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709684
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709683
    reference: chr 19
allele count: 5
allele frequency: 4.245563386261357e-5
allele num: 117770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+47delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+47delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+47delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+47delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+47delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+47delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+47delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+47delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+47delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1165+47delC
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11543
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: TC
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-7709687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709687
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709687
    reference: chr 19
allele count: 2
allele frequency: 1.698658060132495e-5
allele num: 117740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+49C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1165+49C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+49C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+49C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+49C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+49C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+49C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+49C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+49C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+49C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12662
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

19-7709688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709688
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709688
    reference: chr 19
allele count: 1
allele frequency: 8.500076500688507e-6
allele num: 117646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+50C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+50C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+50C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+50C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+50C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+50C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+50C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+50C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1165+50C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+50C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12662
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-7709723-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709723
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709720
    reference: chr 19
allele count: 1
allele frequency: 1.298768767208686e-5
allele num: 76996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1166-41_1166-39delCTT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+86_1246+88delCTT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+86_187+88delCTT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+86_240+88delCTT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+86_1279+88delCTT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+86_*533+88delCTT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+86_170+88delCTT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+86_404+88delCTT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+86_329+88delCTT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+86_1237+88delCTT
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: CCTT
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

19-7709724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709724
    reference: chr 19
allele count: 1
allele frequency: 1.319330835400285e-5
allele num: 75796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+86C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+86C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+86C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+86C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+86C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+86C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+86C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1166-41C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+86C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+86C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-7709730-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709730
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709730
    reference: chr 19
allele count: 146
allele frequency: 2.260061919504644e-3
allele num: 64600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+92T>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+92T>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+92T>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+92T>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+92T>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+92T>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+92T>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+92T>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1166-35T>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+92T>A
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24284
  bin: 1.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20462
  bin: 7.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 2.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 1.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 3
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

19-7709732-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709732
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709732
    reference: chr 19
allele count: 1
allele frequency: 1.559819060988925e-5
allele num: 64110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+94A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+94A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+94A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+94A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+94A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+94A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1166-33A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+94A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+94A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+94A>G
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24273
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  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 depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

19-7709734-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709734
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709734
    reference: chr 19
allele count: 1
allele frequency: 1.598618793362535e-5
allele num: 62554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+96T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+96T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+96T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+96T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+96T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+96T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+96T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+96T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+96T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1166-31T>G
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

19-7709744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709744
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709744
    reference: chr 19
allele count: 9
allele frequency: 2.126955617526114e-4
allele num: 42314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+106C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+106C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+106C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+106C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+106C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+106C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+106C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+106C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+106C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1166-21C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18937
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23153
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

19-7709750-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709750
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709750
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 30638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+112C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+112C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+112C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+112C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+112C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+112C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+112C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1166-15C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+112C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+112C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20308
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-7709755-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709755
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709754
    reference: chr 19
allele count: 1
allele frequency: 3.736641506613855e-5
allele num: 26762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+122delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1166-5delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+122delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+122delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+122delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+122delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+122delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+122delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+122delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+122delC
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22523
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12859
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: AC
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

19-7709763-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709763
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709763
    reference: chr 19
allele count: 1
allele frequency: 5.478851632697787e-5
allele num: 18252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+125A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+125A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+125A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+125A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+125A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+125A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+125A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+125A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1166-2A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+125A>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19129
  bin: 7.5e0
  variant carriers: 2
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: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1166-2A>G
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

19-7709769-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709769
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709769
    reference: chr 19
allele count: 3
allele frequency: 3.407542026351658e-4
allele num: 8804
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+131C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+131C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+131C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+131C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+131C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1170C>G
  hgvsp: ENST00000597068.1:c.1170C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+131C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+131C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+131C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+131C>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14752
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11522
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr390Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

19-7709773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709773
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709773
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 7260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+135C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+135C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+135C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+135C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+135C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+135C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1174C>T
  hgvsp: ENST00000597068.1:c.1174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+135C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+135C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+135C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 36250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13762
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu392Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

19-7709780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709780
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709780
    reference: chr 19
allele count: 7
allele frequency: 1.745635910224439e-3
allele num: 4010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1181C>T
  hgvsp: ENSP00000471327.1:p.Pro394Leu
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+142C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+142C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+142C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+142C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+142C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+142C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+142C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+142C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+142C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38184
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro394Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

19-7709781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709781
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709781
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 3840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+143G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+143G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+143G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+143G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+143G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1182G>A
  hgvsp: ENST00000597068.1:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+143G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+143G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+143G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+143G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro394Pro
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-7709785-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709785
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709784
    reference: chr 19
allele count: 1
allele frequency: 3.134796238244514e-4
allele num: 3190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+150delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+150delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+150delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+150delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1189delC
  hgvsp: ENSP00000471327.1:p.Leu397SerfsTer14
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+150delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+150delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+150delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+150delC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+150delC
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9850
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38752
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu397SerfsTer14
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: AC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

19-7709828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7709828
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7709828
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 1016
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1246+190C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1221+8C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*533+190C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1237+190C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1279+190C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.170+190C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.329+190C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.187+190C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.404+190C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.240+190C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 2.25e1
  variant carriers: 1
hgvs: c.1221+8C>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

19-7710036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710036
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710036
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 19040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1238-47G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.330-47G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.405-47G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1280-47G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.241-47G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1222-47G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.188-47G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*534-47G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.171-47G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1247-47G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32482
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23967
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-7710040-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710040
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710040
    reference: chr 19
allele count: 7634
allele frequency: 3.931808817470128e-1
allele num: 19416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.188-43T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.171-43T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.330-43T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1238-43T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1222-43T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1247-43T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*534-43T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.241-43T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1280-43T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.405-43T>C
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 587
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.25e1
  variant carriers: 505
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 244
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 7.5e0
  variant carriers: 4028
genotype depth: GenotypeDepth
  all individuals: 23740
  bin: 2.5e0
  variant carriers: 4683
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.25e1
  variant carriers: 706
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 377
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 2.75e1
  variant carriers: 431
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 379
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 3.25e1
  variant carriers: 338
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 434
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 410
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 117
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 6.25e1
  variant carriers: 431
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 6.75e1
  variant carriers: 229
num of homozygotes: 1566
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

19-7710043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710043
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710043
    reference: chr 19
allele count: 1
allele frequency: 5.170096163788646e-5
allele num: 19342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.241-40C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.188-40C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1222-40C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*534-40C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1280-40C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.405-40C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.171-40C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1238-40C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1247-40C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.330-40C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-7710049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710049
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710049
    reference: chr 19
allele count: 1
allele frequency: 5.172235440157236e-5
allele num: 19334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.405-34C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1238-34C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1222-34C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.171-34C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.188-34C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1247-34C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.330-34C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1280-34C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.241-34C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*534-34C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

19-7710050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710050
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710050
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 19422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.405-33G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*534-33G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.330-33G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.241-33G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1247-33G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.171-33G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1238-33G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.188-33G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1222-33G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1280-33G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7149
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD

19-7710051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710051
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710051
    reference: chr 19
allele count: 6
allele frequency: 3.088008234688626e-4
allele num: 19430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.330-32C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.171-32C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1280-32C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*534-32C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.188-32C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.241-32C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1238-32C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1222-32C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1247-32C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.405-32C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7248
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34582
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

19-7710053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710053
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710053
    reference: chr 19
allele count: 1
allele frequency: 5.133997330321388e-5
allele num: 19478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.405-30G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.188-30G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.330-30G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1222-30G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1238-30G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1247-30G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.171-30G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.241-30G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1280-30G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*534-30G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35041
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30583
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

19-7710055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710055
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710055
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 19566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.241-28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.188-28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1238-28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1247-28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.330-28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.171-28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*534-28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.405-28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1222-28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1280-28C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35239
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

19-7710073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710073
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710073
    reference: chr 19
allele count: 632
allele frequency: 3.04783950617284e-2
allele num: 20736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.241-10C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.405-10C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*534-10C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1247-10C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1238-10C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1222-10C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.188-10C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.171-10C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.330-10C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1280-10C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 15302
  bin: 7.5e0
  variant carriers: 1044
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 30710
  bin: 2.5e0
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.25e1
  variant carriers: 241
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 2.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 18
num of homozygotes: 26
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS

19-7710074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710074
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710074
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 20786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.241-9G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.171-9G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.330-9G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1247-9G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.405-9G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.188-9G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*534-9G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1238-9G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1222-9G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1280-9G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15978
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

19-7710080-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710080
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710080
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*534-3C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.171-3C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.405-3C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1238-3C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.188-3C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.241-3C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1222-3C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1247-3C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1280-3C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.330-3C>G
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1247-3C>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

19-7710082-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710082
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710082
    reference: chr 19
allele count: 7
allele frequency: 3.258238689257121e-4
allele num: 21484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.330-1G>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1238-1G>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1247-1G>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.405-1G>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*534-1G>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.1G>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1280-1G>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.241-1G>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.171-1G>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.1222-1G>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.188-1G>C
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27434
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20026
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 6.75e1
  variant carriers: 3
hgvs: c.1247-1G>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

19-7710099-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710099
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710099
    reference: chr 19
allele count: 1
allele frequency: 4.273869561500983e-5
allele num: 23398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.346C>T
  hgvsp: ENST00000600702.1:c.346C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1296C>T
  hgvsp: ENST00000441779.2:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.257C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*550C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.18C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.204C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1254C>T
  hgvsp: ENST00000414284.2:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1263C>T
  hgvsp: ENST00000221283.5:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.421C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.187C>T
  hgvsp: ENST00000599400.1:c.187C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26021
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn421Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-7710104-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710104
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710104
    reference: chr 19
allele count: 2
allele frequency: 8.341675008341675e-5
allele num: 23976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1301C>A
  hgvsp: ENSP00000413606.2:p.Ala434Asp
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*16C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.23C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1259C>A
  hgvsp: ENSP00000409471.1:p.Ala420Asp
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.192C>A
  hgvsp: ENSP00000473040.1:p.Ala65Asp
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.426C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.262C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1268C>A
  hgvsp: ENSP00000221283.4:p.Ala423Asp
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.209C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*555C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.351C>A
  hgvsp: ENSP00000471737.1:p.Ala118Asp
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala423Asp
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-7710109-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710109
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710109
    reference: chr 19
allele count: 1
allele frequency: 4.013807497792406e-5
allele num: 24914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1306C>T
  hgvsp: ENST00000441779.2:c.1306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.356C>T
  hgvsp: ENST00000600702.1:c.356C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.197C>T
  hgvsp: ENST00000599400.1:c.197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.214C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*560C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.267C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1273C>T
  hgvsp: ENST00000221283.5:c.1273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.431C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1264C>T
  hgvsp: ENST00000414284.2:c.1264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu425Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

19-7710122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710122
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710122
    reference: chr 19
allele count: 27
allele frequency: 9.767744736270893e-4
allele num: 27642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1286C>T
  hgvsp: ENSP00000221283.4:p.Ala429Val
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*573C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.227C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1319C>T
  hgvsp: ENSP00000413606.2:p.Ala440Val
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.444C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.210C>T
  hgvsp: ENSP00000473040.1:p.Ala71Val
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.369C>T
  hgvsp: ENSP00000471737.1:p.Ala124Val
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.280C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*34C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.41C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1277C>T
  hgvsp: ENSP00000409471.1:p.Ala426Val
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 14076
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31864
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala429Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

19-7710125-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710125
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710125
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 28270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1280A>G
  hgvsp: ENSP00000409471.1:p.Asn427Ser
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*37A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.230A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1289A>G
  hgvsp: ENSP00000221283.4:p.Asn430Ser
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1322A>G
  hgvsp: ENSP00000413606.2:p.Asn441Ser
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.372A>G
  hgvsp: ENSP00000471737.1:p.Asn125Ser
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.283A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.447A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*576A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.213A>G
  hgvsp: ENSP00000473040.1:p.Asn72Ser
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.44A>G
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32300
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn430Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-7710126-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710126
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710126
    reference: chr 19
allele count: 1
allele frequency: 3.519391849088478e-5
allele num: 28414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1323T>C
  hgvsp: ENST00000441779.2:c.1323T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.45T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1290T>C
  hgvsp: ENST00000221283.5:c.1290T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.373T>C
  hgvsp: ENST00000600702.1:c.373T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1281T>C
  hgvsp: ENST00000414284.2:c.1281T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.284T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*38T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.231T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.214T>C
  hgvsp: ENST00000599400.1:c.214T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.448T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*577T>C
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32472
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn430Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-7710134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710134
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710134
    reference: chr 19
allele count: 483
allele frequency: 1.584853655335346e-2
allele num: 30476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.381C>T
  hgvsp: ENSP00000471737.1:p.Ala128Val
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.222C>T
  hgvsp: ENSP00000473040.1:p.Ala75Val
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1289C>T
  hgvsp: ENSP00000409471.1:p.Ala430Val
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.456C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*585C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1298C>T
  hgvsp: ENSP00000221283.4:p.Ala433Val
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1331C>T
  hgvsp: ENSP00000413606.2:p.Ala444Val
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.239C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.53C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*46C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.292C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 32850
  bin: 7.5e0
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 2.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 1.25e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala433Val
num of homozygotes: 6
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-7710134-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710134
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710134
    reference: chr 19
allele count: 1
allele frequency: 3.281270507940675e-5
allele num: 30476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.53C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1331C>A
  hgvsp: ENSP00000413606.2:p.Ala444Glu
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.456C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1298C>A
  hgvsp: ENSP00000221283.4:p.Ala433Glu
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*585C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.222C>A
  hgvsp: ENSP00000473040.1:p.Ala75Glu
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.381C>A
  hgvsp: ENSP00000471737.1:p.Ala128Glu
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.292C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.239C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*46C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1289C>A
  hgvsp: ENSP00000409471.1:p.Ala430Glu
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala433Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

19-7710135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710135
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710135
    reference: chr 19
allele count: 15
allele frequency: 4.900359359686377e-4
allele num: 30610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*586G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.54G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1290G>A
  hgvsp: ENST00000414284.2:c.1290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.382G>A
  hgvsp: ENST00000600702.1:c.382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.293G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1299G>A
  hgvsp: ENST00000221283.5:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.223G>A
  hgvsp: ENST00000599400.1:c.223G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.457G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1332G>A
  hgvsp: ENST00000441779.2:c.1332G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.240G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32937
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala433Ala
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

19-7710139-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710139
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710138
    reference: chr 19
allele count: 1
allele frequency: 3.14030900640623e-5
allele num: 31844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.298delG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.59delG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1337delG
  hgvsp: ENSP00000413606.2:p.Ser446ThrfsTer48
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*591delG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1295delG
  hgvsp: ENSP00000409471.1:p.Ser432ThrfsTer48
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*52delG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.462delG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.228delG
  hgvsp: ENSP00000473040.1:p.Ser77ThrfsTer170
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1304delG
  hgvsp: ENSP00000221283.4:p.Ser435ThrfsTer48
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.387delG
  hgvsp: ENSP00000471737.1:p.Ser130ThrfsTer48
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.245delG
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser435ThrfsTer48
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: AG
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-7710140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710140
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710140
    reference: chr 19
allele count: 1
allele frequency: 3.159757330637007e-5
allele num: 31648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1295G>A
  hgvsp: ENSP00000409471.1:p.Ser432Asn
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*591G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.245G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.228G>A
  hgvsp: ENSP00000473040.1:p.Ser77Asn
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.462G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1304G>A
  hgvsp: ENSP00000221283.4:p.Ser435Asn
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*52G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1337G>A
  hgvsp: ENSP00000413606.2:p.Ser446Asn
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.59G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.387G>A
  hgvsp: ENSP00000471737.1:p.Ser130Asn
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.298G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser435Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

19-7710159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710159
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710159
    reference: chr 19
allele count: 3
allele frequency: 8.543600842968616e-5
allele num: 35114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*610G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.264G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1314G>A
  hgvsp: ENST00000414284.2:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*71G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.406G>A
  hgvsp: ENST00000600702.1:c.406G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.481G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1356G>A
  hgvsp: ENST00000441779.2:c.1356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.247G>A
  hgvsp: ENST00000599400.1:c.247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.78G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1323G>A
  hgvsp: ENST00000221283.5:c.1323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.317G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32345
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu441Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

19-7710189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710189
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710189
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 35390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1386C>T
  hgvsp: ENST00000441779.2:c.1386C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*640C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.511C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1344C>T
  hgvsp: ENST00000414284.2:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.277C>T
  hgvsp: ENST00000599400.1:c.277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.436C>T
  hgvsp: ENST00000600702.1:c.436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.108C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1353C>T
  hgvsp: ENST00000221283.5:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*101C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.347C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.294C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28195
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro451Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

19-7710190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710190
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710190
    reference: chr 19
allele count: 1
allele frequency: 2.815473844247987e-5
allele num: 35518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.512G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.109G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1345G>A
  hgvsp: ENSP00000409471.1:p.Gly449Arg
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.278G>A
  hgvsp: ENSP00000473040.1:p.Gly94Arg
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*102G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.295G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1354G>A
  hgvsp: ENSP00000221283.4:p.Gly452Arg
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*641G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1387G>A
  hgvsp: ENSP00000413606.2:p.Gly463Arg
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.348G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.437G>A
  hgvsp: ENSP00000471737.1:p.Gly147Arg
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28191
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly452Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-7710196-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710196
    reference: chr 19
allele count: 1
allele frequency: 2.92141396435875e-5
allele num: 34230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+4C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+4C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+4C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+4C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+4C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+4C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+4C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+4C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+4C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.301C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+4C>A
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1356+4C>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

19-7710196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710196
    reference: chr 19
allele count: 6
allele frequency: 1.75284837861525e-4
allele num: 34230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+4C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+4C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+4C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+4C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.301C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+4C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+4C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+4C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+4C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+4C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+4C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14738
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27165
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1356+4C>T
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

19-7710197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710197
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710197
    reference: chr 19
allele count: 2
allele frequency: 5.867511588335387e-5
allele num: 34086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+5G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+5G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.302G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+5G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+5G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+5G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+5G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+5G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+5G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+5G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+5G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27011
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1356+5G>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

19-7710202-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710202
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710202
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 32728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+10G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+10G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.307G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+10G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+10G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+10G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+10G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+10G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+10G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+10G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+10G>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26590
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-7710203-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710203
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710203
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 32884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+11A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+11A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+11A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+11A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+11A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+11A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.308A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+11A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+11A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+11A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+11A>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5262
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

19-7710204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710204
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710204
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 32010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+12G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+12G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+12G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+12G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+12G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+12G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+12G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+12G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.309G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+12G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+12G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26394
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD

19-7710205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710205
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710205
    reference: chr 19
allele count: 8
allele frequency: 2.496723050995568e-4
allele num: 32042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+13C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+13C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+13C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+13C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+13C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+13C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+13C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.310C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+13C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+13C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+13C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26328
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

19-7710206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710206
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710206
    reference: chr 19
allele count: 3
allele frequency: 9.596315015034226e-5
allele num: 31262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+14G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.311G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+14G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+14G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+14G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+14G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+14G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+14G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+14G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+14G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+14G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25933
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5242
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

19-7710210-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710210
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710210
    reference: chr 19
allele count: 16965
allele frequency: 4.619594815379588e-1
allele num: 36724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.315A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+18A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+18A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+18A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+18A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+18A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+18A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+18A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+18A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+18A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+18A>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 383
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 2.75e1
  variant carriers: 649
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 1.75e1
  variant carriers: 1611
genotype depth: GenotypeDepth
  all individuals: 23967
  bin: 7.5e0
  variant carriers: 13363
genotype depth: GenotypeDepth
  all individuals: 13105
  bin: 2.5e0
  variant carriers: 2687
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.25e1
  variant carriers: 743
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 550
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 1.25e1
  variant carriers: 6644
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 2.25e1
  variant carriers: 714
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 777
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 669
genotype quality: GenotypeQuality
  all individuals: 8695
  bin: 2.25e1
  variant carriers: 2691
num of homozygotes: 3548
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

19-7710215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710215
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710215
    reference: chr 19
allele count: 1
allele frequency: 3.810975609756098e-5
allele num: 26240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+23G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+23G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.320G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+23G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+23G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+23G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+23G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+23G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+23G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+23G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+23G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13684
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

19-7710220-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710220
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710220
    reference: chr 19
allele count: 2
allele frequency: 7.973845785822502e-5
allele num: 25082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.325C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+28C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+28C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17790
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-7710228-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710228
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710228
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 22964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+36A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+36A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+36A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+36A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+36A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+36A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+36A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.333A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+36A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+36A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+36A>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17174
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27176
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-7710234-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710234
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710234
    reference: chr 19
allele count: 4
allele frequency: 1.886614470332987e-4
allele num: 21202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.339C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+42C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+42C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+42C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+42C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+42C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+42C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+42C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+42C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+42C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+42C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28411
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17365
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

19-7710235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710235
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710235
    reference: chr 19
allele count: 3
allele frequency: 1.397428731134712e-4
allele num: 21468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+43G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.340G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+43G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+43G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+43G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+43G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+43G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+43G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+43G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+43G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+43G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28555
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17334
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-7710236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710236
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710236
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 20984
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+44G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+44G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+44G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+44G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.341G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+44G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+44G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+44G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+44G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+44G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+44G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 28526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17410
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6445
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-7710243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7710243
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7710243
    reference: chr 19
allele count: 1
allele frequency: 4.874719703617042e-5
allele num: 20514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*104+51G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1389+51G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000599558
  gene symbol: STXBP2
  hgvsc: ENST00000599558.1:n.348G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+51G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.514+51G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.439+51G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.111+51G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1347+51G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.350+51G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1356+51G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.280+51G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17506
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-7711008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7711008
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7711008
    reference: chr 19
allele count: 31
allele frequency: 4.038561750911933e-3
allele num: 7676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.281-50G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+816G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.112-127G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1357-127G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.351-127G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473406
  ensembl transcript: ENST00000602355
  gene symbol: STXBP2
  hgvsc: ENST00000602355.1:c.-166G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1390-127G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*105-127G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.515-127G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1348-127G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.440-127G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 35125
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 5
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

19-7711047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7711047
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7711047
    reference: chr 19
allele count: 9
allele frequency: 8.635578583765112e-4
allele num: 10422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1390-88C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+855C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1348-88C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1357-88C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473406
  ensembl transcript: ENST00000602355
  gene symbol: STXBP2
  hgvsc: ENST00000602355.1:c.-127C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.351-88C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*105-88C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.515-88C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.440-88C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.112-88C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.281-11C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9297
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37075
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7356
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-7711051-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7711051
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7711051
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 10946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.281-7C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473406
  ensembl transcript: ENST00000602355
  gene symbol: STXBP2
  hgvsc: ENST00000602355.1:c.-123C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*105-84C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1390-84C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1357-84C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.515-84C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.112-84C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.440-84C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+859C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.351-84C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1348-84C>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: splice region
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.281-7C>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

19-7711051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7711051
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7711051
    reference: chr 19
allele count: 1
allele frequency: 9.135757354284671e-5
allele num: 10946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.440-84C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.1348-84C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1390-84C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000593854
  gene symbol: STXBP2
  hgvsc: ENST00000593854.1:n.515-84C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.1357-84C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+859C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473406
  ensembl transcript: ENST00000602355
  gene symbol: STXBP2
  hgvsc: ENST00000602355.1:c.-123C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000601061
  gene symbol: STXBP2
  hgvsc: ENST00000601061.1:n.112-84C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*105-84C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.281-7C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.351-84C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.281-7C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-7711053-ACC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7711053
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7711051
    reference: chr 19
allele count: 2
allele frequency: 1.825483753194597e-4
allele num: 10956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.1390-81_1390-80delCC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471737
  ensembl transcript: ENST00000600702
  gene symbol: STXBP2
  hgvsc: ENST00000600702.1:c.440-81_440-80delCC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  hgvsc: ENST00000597068.1:c.*105-81_*105-80delCC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473406
  ensembl transcript: ENST00000602355
  gene symbol: STXBP2
  hgvsc: ENST00000602355.1:c.-120_-119delCC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  hgvsc: ENST00000599737.1:c.*643+862_*643+863delCC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595800
  gene symbol: STXBP2
  hgvsc: ENST00000595800.1:n.351-81_351-80delCC
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000473040
  ensembl transcript: ENST00000599400
  gene symbol: STXBP2
  hgvsc: ENST00000599400.1:c.281-4_281-3delCC
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
hgvs: c.281-4_281-3delCC
num of homozygotes: 0
reference allele: ACC

GenotypeQuality
all individuals: 12671
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 318
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5221
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 608
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7508
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3572
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4632
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 1.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547700117625209e-5
allele num: 64612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.997808e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.402e1

MQRankSum
type: SiteQuality
SIO_000300: -4.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 330
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12660
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 387
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555693839452396e-5
allele num: 64280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.39e-1

DP
type: SiteQuality
SIO_000300: 1.974564e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 9.513999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.024999999999999e-1

QD
type: SiteQuality
SIO_000300: 4.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 887
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12660
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1046
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64280
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 9.513999999999999e0

DP
type: SiteQuality
SIO_000300: 1.974564e6

QD
type: SiteQuality
SIO_000300: 4.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.024999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1579
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6690
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5105
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3561
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.023331968890708e-4
allele num: 9772
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.088511538222305e-4
allele num: 64308
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.135e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

DP
type: SiteQuality
SIO_000300: 1.973855e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

GenotypeQuality
all individuals: 582
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12665
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6469
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5112
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.113421962078521e-5
allele num: 64238
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.822378811809015e-4
allele num: 16462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.472e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 7.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.051e1

DP
type: SiteQuality
SIO_000300: 1.970335e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

GenotypeQuality
all individuals: 4596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5106
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10782
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64220
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.34796900680911e-4
allele num: 8518
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.913e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.969249e6

GenotypeQuality
all individuals: 3560
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6393
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9952
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5108
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.037e0

DP
type: SiteQuality
SIO_000300: 1.968624e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

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

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

GenotypeQuality
all individuals: 253
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 132
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2463
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.835483300936562e-5
allele num: 11318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7210
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.009e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.98194e5

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

GenotypeQuality
all individuals: 214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4058
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36622
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.402806477966265e-5
allele num: 41618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -2.504e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

DP
type: SiteQuality
SIO_000300: 7.84721e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 307
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 388
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1298
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 9.75e1
variant carriers: 136

GenotypeQuality
all individuals: 7512
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38271
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 628
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3511
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 163
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 90
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 31
bin: 8.25e1
variant carriers: 10

Other
type: Population
allele count: 3
allele frequency: 6.493506493506494e-3
allele num: 462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 70
allele frequency: 1.971386729751042e-3
allele num: 35508
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 5.782575173477255e-4
allele num: 5188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4718
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 3.174072836618777e-3
allele num: 5986
num of homozygotes: 0

South Asian
type: Population
allele count: 51
allele frequency: 5.28169014084507e-3
allele num: 9656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3082
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 6.5357e5

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.282e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

GenotypeQuality
all individuals: 7631
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38877
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1031
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35214
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.043405676126878e-4
allele num: 9584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4676
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.546e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 6.49328e5

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38813
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3400
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2990
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.066780456582035e-4
allele num: 9374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34376
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.3e1

DP
type: SiteQuality
SIO_000300: 6.33462e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1217
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 15546
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 34112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1467
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 4.310344827586207e-3
allele num: 1856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.260032376246059e-5
allele num: 23474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2970
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.01598e5

FS
type: SiteQuality
SIO_000300: 9.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.37e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

GenotypeQuality
all individuals: 1614
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27229
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22064
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1715
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1027
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 319
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2238
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

DP
type: SiteQuality
SIO_000300: 4.23407e5

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 7.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.54e-2

GenotypeQuality
all individuals: 1416
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25445
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24394
bin: 7.5e0
variant carriers: 1

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

GenotypeQuality
all individuals: 379
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.685385746757588e-5
allele num: 14958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1056
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.98466e5

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.485e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.262e0

QD
type: SiteQuality
SIO_000300: 2.93e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 2031
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30462
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 9.75e1
variant carriers: 3

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

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

GenotypeQuality
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.813542688910697e-5
allele num: 10190
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

DP
type: SiteQuality
SIO_000300: 3.33471e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.141e1

FS
type: SiteQuality
SIO_000300: 3.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.23e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.387e0

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

GenotypeQuality
all individuals: 2368
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2564
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 9.75e1
variant carriers: 6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4872
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.747126436781609e-3
allele num: 522
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.71e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.504e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

FS
type: SiteQuality
SIO_000300: 3.066e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.57648e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 206
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10837
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4006
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.96e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.754e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 2.40902e5

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.056e1

VQSLOD
type: SiteQuality
SIO_000300: -2.243e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8011
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37002
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 11
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.23728813559322e-3
allele num: 472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.234137622877569e-3
allele num: 2238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.51e-2

QD
type: SiteQuality
SIO_000300: 1.351e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.712e0

DP
type: SiteQuality
SIO_000300: 2.06478e5

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2911
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37188
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2138
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.05378e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.361e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 5.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.67e-2

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3207
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36996
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6669
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 163
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1826
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.677852348993289e-3
allele num: 596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.93e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.89336e5

GenotypeQuality
all individuals: 7
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27455
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3301
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.018e1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.003e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 9.856e4

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2624
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4239
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5837
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.015e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.231e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 4.58009e5

GenotypeQuality
all individuals: 912
bin: 2.75e1
variant carriers: 819

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 61

GenotypeQuality
all individuals: 2028
bin: 1.75e1
variant carriers: 1432

GenotypeQuality
all individuals: 9279
bin: 2.5e0
variant carriers: 20

GenotypeQuality
all individuals: 346
bin: 3.25e1
variant carriers: 243

GenotypeQuality
all individuals: 1427
bin: 2.25e1
variant carriers: 741

GenotypeQuality
all individuals: 2630
bin: 1.25e1
variant carriers: 1502

GenotypeQuality
all individuals: 5803
bin: 9.75e1
variant carriers: 5557

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 146

GenotypeQuality
all individuals: 13005
bin: 7.5e0
variant carriers: 2363

GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 240

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 292

GenotypeQuality
all individuals: 216
bin: 5.25e1
variant carriers: 189

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 119

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 107

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 93

GenotypeQuality
all individuals: 289
bin: 7.75e1
variant carriers: 100

European (Finnish)
type: Population
allele count: 34
allele frequency: 5.151515151515151e-1
allele num: 66
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 2841
allele frequency: 3.632063410892355e-1
allele num: 7822
num of homozygotes: 502

African
type: Population
allele count: 1369
allele frequency: 5.820578231292517e-1
allele num: 2352
num of homozygotes: 391

Latino
type: Population
allele count: 191
allele frequency: 4.613526570048309e-1
allele num: 414
num of homozygotes: 38

East Asian
type: Population
allele count: 445
allele frequency: 6.931464174454829e-1
allele num: 642
num of homozygotes: 146

South Asian
type: Population
allele count: 2676
allele frequency: 3.377934864933098e-1
allele num: 7922
num of homozygotes: 464

Other
type: Population
allele count: 78
allele frequency: 3.939393939393939e-1
allele num: 198
num of homozygotes: 18

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 4.94257e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.300000000000001e0

QD
type: SiteQuality
SIO_000300: 1.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.396e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2770
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 356
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26492
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 4.212299915754001e-4
allele num: 2374
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.106e0

FS
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.519e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.295e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 4.4741e5

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3425
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28571
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3292
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3893
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.212299915754001e-4
allele num: 2374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.11e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

DP
type: SiteQuality
SIO_000300: 4.54658e5

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 1.708e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 315
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3779
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1951
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2145
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 4.58286e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.312e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.1e0

GenotypeQuality
all individuals: 3831
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3733
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 244
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2155
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 29185
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3238
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2106
bin: 1.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 309
bin: 2.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 5
allele frequency: 1.231527093596059e-2
allele num: 406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.173622704507513e-4
allele num: 2396
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 1.273e0

DP
type: SiteQuality
SIO_000300: 4.59337e5

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 302
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4947
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 303
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.264542235710673e-4
allele num: 7908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.493e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.17e-2

FS
type: SiteQuality
SIO_000300: 3.246e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 4.66221e5

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

GenotypeQuality
all individuals: 463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31198
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3225
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1555
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.72043e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.138e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.18e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.24e-1

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 81

GenotypeQuality
all individuals: 1912
bin: 1.75e1
variant carriers: 121

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 10

GenotypeQuality
all individuals: 344
bin: 3.25e1
variant carriers: 65

GenotypeQuality
all individuals: 1935
bin: 1.25e1
variant carriers: 74

GenotypeQuality
all individuals: 11190
bin: 2.25e1
variant carriers: 99

GenotypeQuality
all individuals: 27971
bin: 7.5e0
variant carriers: 84

GenotypeQuality
all individuals: 2816
bin: 9.75e1
variant carriers: 793

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 46

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 62

GenotypeQuality
all individuals: 2476
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 461
bin: 2.75e1
variant carriers: 129

GenotypeQuality
all individuals: 555
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1155
bin: 6.75e1
variant carriers: 102

GenotypeQuality
all individuals: 3594
bin: 6.25e1
variant carriers: 90

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 32

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 7

European (Non-Finnish)
type: Population
allele count: 100
allele frequency: 1.1936022917164e-2
allele num: 8378
num of homozygotes: 0

African
type: Population
allele count: 272
allele frequency: 1.035007610350076e-1
allele num: 2628
num of homozygotes: 17

East Asian
type: Population
allele count: 41
allele frequency: 5.256410256410256e-2
allele num: 780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 1.354166666666667e-1
allele num: 96
num of homozygotes: 0

Latino
type: Population
allele count: 188
allele frequency: 2.789317507418398e-1
allele num: 674
num of homozygotes: 9

South Asian
type: Population
allele count: 13
allele frequency: 1.629072681704261e-3
allele num: 7980
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 2.5e-2
allele num: 200
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.513e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

DP
type: SiteQuality
SIO_000300: 5.29833e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12282
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28390
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 366
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2614
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.325e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 5.27276e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.35e-2

QD
type: SiteQuality
SIO_000300: 7.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1946
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 360
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 9.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26480
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16151
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8718
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.682e0

DP
type: SiteQuality
SIO_000300: 5.48353e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.87e-2

FS
type: SiteQuality
SIO_000300: 2.632e0

QD
type: SiteQuality
SIO_000300: 2.531e1

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17119
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 25828
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3850
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2062
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 984
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 369
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2152
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 6.762849413886385e-4
allele num: 8872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.246882793017456e-4
allele num: 8020
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.71e-2

DP
type: SiteQuality
SIO_000300: 5.55525e5

FS
type: SiteQuality
SIO_000300: 4.756e0

GenotypeDepth
all individuals: 2123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 665
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 768
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22539
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20452
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.974e0

QD
type: SiteQuality
SIO_000300: 9.43e0

DP
type: SiteQuality
SIO_000300: 6.01367e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.77e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeDepth
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3361
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23120
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19033
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 578
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1122
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 6.752194463200541e-4
allele num: 2962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.194e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

FS
type: SiteQuality
SIO_000300: 1.391e0

DP
type: SiteQuality
SIO_000300: 6.13607e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.969e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.59e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

GenotypeDepth
all individuals: 404
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1498
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 614
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17562
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25848
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.074410163339382e-5
allele num: 11020
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.728e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.097e0

DP
type: SiteQuality
SIO_000300: 6.28266e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.24e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.577e0

QD
type: SiteQuality
SIO_000300: 4.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

GenotypeDepth
all individuals: 705
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13710
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4795
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 488
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 654
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29087
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2492
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1156
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2167
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 772
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.861635220125787e-4
allele num: 1272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 1.649387370405278e-3
allele num: 12732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.938242280285036e-4
allele num: 8420
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.61e-2

DP
type: SiteQuality
SIO_000300: 6.65374e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.127e0

QD
type: SiteQuality
SIO_000300: 1.099e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.154e0

GenotypeDepth
all individuals: 88
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4871
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29688
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13097
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.368e0

QD
type: SiteQuality
SIO_000300: 4.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.70956e5

GenotypeDepth
all individuals: 172
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2498
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12899
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 799
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29856
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.03030303030303e-4
allele num: 3300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.72691e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeDepth
all individuals: 701
bin: 4.25e1
variant carriers: 10

GenotypeQuality
all individuals: 4950
bin: 6.25e1
variant carriers: 36

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 272
bin: 8.75e1
variant carriers: 32

GenotypeQuality
all individuals: 2577
bin: 1.75e1
variant carriers: 13

GenotypeQuality
all individuals: 904
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 30119
bin: 2.25e1
variant carriers: 11

GenotypeQuality
all individuals: 594
bin: 7.75e1
variant carriers: 18

GenotypeQuality
all individuals: 823
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 22

GenotypeQuality
all individuals: 1382
bin: 1.25e1
variant carriers: 9

GenotypeQuality
all individuals: 993
bin: 2.75e1
variant carriers: 15

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 32

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 11304
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 383
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2491
bin: 9.75e1
variant carriers: 426

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 30

GenotypeQuality
all individuals: 487
bin: 7.25e1
variant carriers: 13

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1152
bin: 6.75e1
variant carriers: 17

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1808
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.749271137026239e-3
allele num: 3430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 352
allele frequency: 2.43598615916955e-2
allele num: 14450
num of homozygotes: 2

Latino
type: Population
allele count: 44
allele frequency: 2.729528535980149e-2
allele num: 1612
num of homozygotes: 1

South Asian
type: Population
allele count: 70
allele frequency: 8.152806894945261e-3
allele num: 8586
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.863354037267081e-2
allele num: 322
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 1.865671641791045e-2
allele num: 268
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.211e1

FS
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 6.97702e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeDepth
all individuals: 143
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30119
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 594
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11304
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2577
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4950
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1808
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.203473945409429e-4
allele num: 1612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

FS
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 6.97702e5

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeDepth
all individuals: 25
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 864
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 804
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 5170
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 218
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1157
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30927
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11230
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3440
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 1.624506846135994e-3
allele num: 8618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.895600606812854e-5
allele num: 14502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

QD
type: SiteQuality
SIO_000300: 1.078e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 6.93948e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

GenotypeDepth
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10619
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31770
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5512
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 884
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.59108884787767e-5
allele num: 15172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

FS
type: SiteQuality
SIO_000300: 2.808e0

QD
type: SiteQuality
SIO_000300: 1.45e1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 7.01817e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeDepth
all individuals: 90
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31382
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10488
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2038
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.146263182026593e-4
allele num: 8724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15014
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

VQSLOD
type: SiteQuality
SIO_000300: -1.517e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

FS
type: SiteQuality
SIO_000300: 1.124e1

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

DP
type: SiteQuality
SIO_000300: 7.0525e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.313e0

GenotypeDepth
all individuals: 697
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2706
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9966
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5686
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.74967922547533e-4
allele num: 17146
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.21838e5

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.473e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.036e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.816e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.099e0

GenotypeDepth
all individuals: 108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26534
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4037
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 680
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2724
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1426
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14357
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.404e0

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

QD
type: SiteQuality
SIO_000300: 2.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 2.913e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.8117e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeDepth
all individuals: 1699
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2499
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14415
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4127
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27086
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8908
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.627430373095113e-4
allele num: 3806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2460
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.81313e5

VQSLOD
type: SiteQuality
SIO_000300: -1.456e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

QD
type: SiteQuality
SIO_000300: 1.189e1

FS
type: SiteQuality
SIO_000300: 1.1088e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

GenotypeDepth
all individuals: 880
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3694
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.134044000907235e-4
allele num: 8818
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2378
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

FS
type: SiteQuality
SIO_000300: 1.071e1

DP
type: SiteQuality
SIO_000300: 6.6143e5

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

QD
type: SiteQuality
SIO_000300: 1.401e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 84
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 22663
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3694
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2038
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.387931034482759e-4
allele num: 3712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.055468087683178e-5
allele num: 16514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.402132002721706e-4
allele num: 8818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2378
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

FS
type: SiteQuality
SIO_000300: 1.071e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 6.6143e5

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.401e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

GenotypeDepth
all individuals: 390
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3844
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 16359
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 8.488964346349745e-4
allele num: 2356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2034
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.02e-1

QD
type: SiteQuality
SIO_000300: 1.169e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.11e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 6.59196e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
all individuals: 18126
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5493
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4858
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3060
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17082
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: -8.789e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.13e-2

QD
type: SiteQuality
SIO_000300: 8.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 6.46403e5

GenotypeQuality
all individuals: 669
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4851
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17126
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1358
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2222
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.618e1

DP
type: SiteQuality
SIO_000300: 6.46296e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.08e-2

GenotypeQuality
all individuals: 17081
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6653
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 946
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16451
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.148e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.42772e5

VQSLOD
type: SiteQuality
SIO_000300: 6.77e-1

GenotypeQuality
all individuals: 1190
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 358
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6237
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5084
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16678
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2070
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.316829075585989e-4
allele num: 15188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3522
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 2.798507462686567e-3
allele num: 2144
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1756
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.324e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

FS
type: SiteQuality
SIO_000300: 4.997e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

DP
type: SiteQuality
SIO_000300: 6.43098e5

GenotypeQuality
all individuals: 14692
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1436
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2073
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7698
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17133
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 5.903187721369539e-4
allele num: 1694
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3446
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 9.643201542912247e-4
allele num: 2074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8666
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 5.44e0

QD
type: SiteQuality
SIO_000300: 1.729e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

DP
type: SiteQuality
SIO_000300: 6.38448e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3488
bin: 1.75e1
variant carriers: 2778

GenotypeQuality
all individuals: 6374
bin: 2.5e0
variant carriers: 104

GenotypeQuality
all individuals: 872
bin: 5.25e1
variant carriers: 858

GenotypeQuality
all individuals: 11187
bin: 9.75e1
variant carriers: 10990

GenotypeQuality
all individuals: 2396
bin: 1.25e1
variant carriers: 1374

GenotypeQuality
all individuals: 444
bin: 4.25e1
variant carriers: 420

GenotypeQuality
all individuals: 1086
bin: 9.25e1
variant carriers: 1041

GenotypeQuality
all individuals: 700
bin: 4.75e1
variant carriers: 681

GenotypeQuality
all individuals: 779
bin: 3.75e1
variant carriers: 687

GenotypeQuality
all individuals: 559
bin: 7.25e1
variant carriers: 383

GenotypeQuality
all individuals: 788
bin: 8.25e1
variant carriers: 700

GenotypeQuality
all individuals: 1014
bin: 8.75e1
variant carriers: 975

GenotypeQuality
all individuals: 1428
bin: 2.75e1
variant carriers: 1145

GenotypeQuality
all individuals: 9984
bin: 7.5e0
variant carriers: 1145

GenotypeQuality
all individuals: 2516
bin: 6.25e1
variant carriers: 629

GenotypeQuality
all individuals: 679
bin: 7.75e1
variant carriers: 500

GenotypeQuality
all individuals: 1054
bin: 6.75e1
variant carriers: 553

GenotypeQuality
all individuals: 856
bin: 5.75e1
variant carriers: 848

GenotypeQuality
all individuals: 1386
bin: 3.25e1
variant carriers: 1182

European (Finnish)
type: Population
allele count: 441
allele frequency: 6.336206896551724e-1
allele num: 696
num of homozygotes: 114

Latino
type: Population
allele count: 1317
allele frequency: 5.419753086419753e-1
allele num: 2430
num of homozygotes: 267

Other
type: Population
allele count: 153
allele frequency: 4.322033898305085e-1
allele num: 354
num of homozygotes: 29

African
type: Population
allele count: 2221
allele frequency: 5.654276985743381e-1
allele num: 3928
num of homozygotes: 577

European (Non-Finnish)
type: Population
allele count: 7677
allele frequency: 4.361931818181818e-1
allele num: 17600
num of homozygotes: 1356

East Asian
type: Population
allele count: 1933
allele frequency: 7.122328666175387e-1
allele num: 2714
num of homozygotes: 637

South Asian
type: Population
allele count: 3223
allele frequency: 3.580315485447678e-1
allele num: 9002
num of homozygotes: 568

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.66132e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.171e-1

QD
type: SiteQuality
SIO_000300: 2.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.39e0

GenotypeQuality
all individuals: 460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4132
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25602
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.042253521126761e-4
allele num: 1420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.61e-2

DP
type: SiteQuality
SIO_000300: 5.05803e5

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4407
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26436
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12802
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.861932938856016e-4
allele num: 1014
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.816793893129771e-3
allele num: 262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.84e-2

DP
type: SiteQuality
SIO_000300: 4.92025e5

VQSLOD
type: SiteQuality
SIO_000300: -1.596e0

FS
type: SiteQuality
SIO_000300: 2.322e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 2.808e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
all individuals: 3114
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3276
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9935
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5368
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2760
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: -1.832e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.19e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.634e1

DP
type: SiteQuality
SIO_000300: 4.61367e5

GenotypeQuality
all individuals: 4439
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2221
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6884
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6169
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 876
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4410
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1093
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 25917
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 1

African
type: Population
allele count: 4
allele frequency: 1.569858712715856e-3
allele num: 2548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 4.40567e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.77e-2

QD
type: SiteQuality
SIO_000300: 1.212e1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 213
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 469
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6196
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 311
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 879
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2419
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 26373
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4083
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7388
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 645
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.30323717242898e-4
allele num: 9082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

FS
type: SiteQuality
SIO_000300: 1.525e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.54e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.39813e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 4843
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4472
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6331
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 938
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25601
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8770
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.41e1

DP
type: SiteQuality
SIO_000300: 4.35839e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 5950
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6573
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24495
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5407
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 642
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.975e1

VQSLOD
type: SiteQuality
SIO_000300: -1.443e0

FS
type: SiteQuality
SIO_000300: 3.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.32869e5

GenotypeQuality
all individuals: 2487
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 21462
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 111
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12506
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 2435
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 129
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 360
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 691
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 770
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 110
bin: 8.25e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1926
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 2.440944881889764e-2
allele num: 1270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3620
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

DP
type: SiteQuality
SIO_000300: 1.91072e5

QD
type: SiteQuality
SIO_000300: 1.408e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.36e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3115
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33750
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 774
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 298
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 148
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 4.379562043795621e-3
allele num: 1370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.587155963302753e-4
allele num: 4360
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.702702702702703e-4
allele num: 3700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.729999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.58033e5

QD
type: SiteQuality
SIO_000300: 1.469e1

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3044
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7780
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33722
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 334
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4548
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.433e-1

DP
type: SiteQuality
SIO_000300: 2.69842e5

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.83e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 7.539e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.495e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7780
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33722
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3044
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 376
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 7.142857142857143e-4
allele num: 1400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4548
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3986
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.433e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.83e-2

FS
type: SiteQuality
SIO_000300: 7.539e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.495e1

DP
type: SiteQuality
SIO_000300: 2.69842e5