19-7704721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704721
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704721
    reference: chr 19
allele count: 12
allele frequency: 1.213322278619239e-4
allele num: 98902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+28T>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.246+28T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+735T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+28T>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.246+28T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2199T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+28T>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.311T>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.246+28T>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.198+28T>C
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13713
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13537
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

19-7704721-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704721
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704721
    reference: chr 19
allele count: 1
allele frequency: 1.011101898849366e-5
allele num: 98902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+735T>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.311T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2199T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.246+28T>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.246+28T>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.246+28T>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.198+28T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+28T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+28T>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.246+28T>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-7704723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704723
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704723
    reference: chr 19
allele count: 95
allele frequency: 9.741391685978548e-4
allele num: 97522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+737C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2197C>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.198+30C>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.246+30C>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.246+30C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+30C>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.246+30C>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.313C>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.246+30C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+30C>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13784
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13143
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 10538
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 9.75e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-7704724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704724
    reference: chr 19
allele count: 7
allele frequency: 7.229612492770387e-5
allele num: 96824
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.246+31G>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.246+31G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2196G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+738G>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.246+31G>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.198+31G>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.314G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+31G>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.246+31G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+31G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

19-7704725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704725
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704725
    reference: chr 19
allele count: 11
allele frequency: 1.138245033112583e-4
allele num: 96640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+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.198+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.246+32C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+739C>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.246+32C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2195C>T
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.246+32C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+32C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+32C>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.315C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14832
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12181
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7805
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-7704726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704726
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704726
    reference: chr 19
allele count: 301
allele frequency: 3.137312126076171e-3
allele num: 95942
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.246+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.246+33G>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.316G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+740G>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.198+33G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2194G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+33G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+33G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+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.246+33G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 1.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 11722
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15229
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 2.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 2.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 2
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

19-7704726-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704726
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704726
    reference: chr 19
allele count: 3
allele frequency: 3.126889162202164e-5
allele num: 95942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+33G>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.246+33G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+740G>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.246+33G>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.246+33G>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.198+33G>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.246+33G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2194G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.316G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+33G>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24692
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-7704729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704729
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704729
    reference: chr 19
allele count: 6
allele frequency: 6.607783969516089e-5
allele num: 90802
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.246+36C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+36C>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.198+36C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+36C>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.319C>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.246+36C>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.246+36C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2191C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+743C>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.246+36C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9669
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3918
  bin: 9.75e1
  variant carriers: 6
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

19-7704731-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704731
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704731
    reference: chr 19
allele count: 1
allele frequency: 1.109804008612079e-5
allele num: 90106
alternate allele: G
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.198+38T>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.246+38T>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.246+38T>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.246+38T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+745T>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.321T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2189T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+38T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+38T>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.246+38T>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-7704732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704732
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704732
    reference: chr 19
allele count: 2
allele frequency: 2.218278615794144e-5
allele num: 90160
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2188G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.322G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+746G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+39G>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.246+39G>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.198+39G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+39G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.246+39G>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.246+39G>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.246+39G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-7704733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704733
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704733
    reference: chr 19
allele count: 134
allele frequency: 1.504502279208677e-3
allele num: 89066
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.198+40C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2187C>T
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.246+40C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+40C>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.323C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+747C>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.246+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.246+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.246+40C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+40C>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 13442
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17231
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 9.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 2
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-7704734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704734
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704734
    reference: chr 19
allele count: 3
allele frequency: 3.369877785765636e-5
allele num: 89024
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.246+41G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+41G>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.246+41G>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.246+41G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2186G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.324G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+41G>A
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.198+41G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+748G>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.246+41G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18050
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-7704737-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704737
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704737
    reference: chr 19
allele count: 1
allele frequency: 1.181446563171948e-5
allele num: 84642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+44T>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.246+44T>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.198+44T>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.327T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2183T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+44T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+751T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+44T>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.246+44T>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.246+44T>C
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-7704738-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704738
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704738
    reference: chr 19
allele count: 4
allele frequency: 4.645652830363987e-5
allele num: 86102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.328A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+752A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+45A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+45A>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.246+45A>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.246+45A>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.246+45A>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.246+45A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2182A>G
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.198+45A>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-7704738-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704738
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704738
    reference: chr 19
allele count: 4
allele frequency: 4.645652830363987e-5
allele num: 86102
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.246+45A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+752A>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.246+45A>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.198+45A>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.328A>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.246+45A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+45A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+45A>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2182A>T
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.246+45A>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-7704739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704739
    reference: chr 19
allele count: 3
allele frequency: 3.676921191322466e-5
allele num: 81590
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.246+46C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+46C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+753C>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.246+46C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+46C>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.246+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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.329C>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.246+46C>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.198+46C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2181C>T
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

19-7704740-A-ATGTGCATG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704740
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704748
    reference: chr 19
allele count: 3092
allele frequency: 3.679025272476322e-2
allele num: 84044
alternate allele: ATGTGCATG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  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
  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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.335_342dupCATGTGTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 2.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 2.25e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 9.75e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 1.75e1
  variant carriers: 746
genotype depth: GenotypeDepth
  all individuals: 16095
  bin: 7.5e0
  variant carriers: 738
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 20346
  bin: 1.25e1
  variant carriers: 1414
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 1.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 15
num of homozygotes: 170
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-7704742-G-GTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704742
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704744
    reference: chr 19
allele count: 3
allele frequency: 3.686681249539165e-5
allele num: 81374
alternate allele: GTC
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.246+50_246+51insCT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+757_169+758insCT
  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.198+50_198+51insCT
  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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.333_334insCT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+50_150+51insCT
  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.246+50_246+51insCT
  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.246+50_246+51insCT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+50_*200+51insCT
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2177_52-2176insCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+50_246+51insCT
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 16818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

19-7704742-GTGCATGTGTGTGTATGTCTGCATGCATGTGAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704742
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704710
    reference: chr 19
allele count: 2
allele frequency: 2.457787499692777e-5
allele num: 81374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  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
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  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
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16818
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20682
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: GTGCATGTGTGTGTATGTCTGCATGCATGTGAT
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-7704743-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704743
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704743
    reference: chr 19
allele count: 2
allele frequency: 2.456278247199843e-5
allele num: 81424
alternate allele: G
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.246+50T>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.246+50T>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.198+50T>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.333T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+50T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+757T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2177T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.246+50T>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.246+50T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+50T>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

19-7704744-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704744
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704744
    reference: chr 19
allele count: 1
allele frequency: 1.232711225068415e-5
allele num: 81122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.334G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+758G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+51G>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.246+51G>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.246+51G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+51G>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.198+51G>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.246+51G>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2176G>T
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.246+51G>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20686
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

19-7704745-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704745
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704743
    reference: chr 19
allele count: 28
allele frequency: 3.474721401801891e-4
allele num: 80582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+53_*200+54delAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+53_246+54delAT
  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.198+53_198+54delAT
  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.246+53_246+54delAT
  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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.336_337delAT
  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.246+53_246+54delAT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2174_52-2173delAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+53_150+54delAT
  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.246+53_246+54delAT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+760_169+761delAT
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20753
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17084
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: CAT
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

19-7704746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704746
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704746
    reference: chr 19
allele count: 1
allele frequency: 1.282314320886336e-5
allele num: 77984
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.246+53A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+53A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+53A>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.336A>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.246+53A>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.246+53A>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.246+53A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2174A>G
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.198+53A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+760A>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

19-7704746-ATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704746
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704744
    reference: chr 19
allele count: 757
allele frequency: 9.707119409109561e-3
allele num: 77984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+61_150+62delGT
  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.246+61_246+62delGT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+61_*200+62delGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+768_169+769delGT
  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.246+61_246+62delGT
  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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.344_345delGT
  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.246+61_246+62delGT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2166_52-2165delGT
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.246+61_246+62delGT
  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.198+61_198+62delGT
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21041
  bin: 1.25e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 1.75e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17701
  bin: 7.5e0
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 9.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 2.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6157
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 7.5e0
  variant carriers: 2
num of homozygotes: 5
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: ATG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

19-7704746-ATGTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704746
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704742
    reference: chr 19
allele count: 25
allele frequency: 3.205785802215839e-4
allele num: 77984
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.246+59_246+62delGTGT
  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.246+59_246+62delGTGT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+59_*200+62delGTGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.342_345delGTGT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2168_52-2165delGTGT
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.246+59_246+62delGTGT
  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.246+59_246+62delGTGT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+59_150+62delGTGT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+766_169+769delGTGT
  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.198+59_198+62delGTGT
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17701
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21041
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31158
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: ATGTG
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ

19-7704748-G-GTGTGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704748
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704754
    reference: chr 19
allele count: 238
allele frequency: 3.116162145176495e-3
allele num: 76376
alternate allele: GTGTGCA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.246+59_246+60insCATGTG
  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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.342_343insCATGTG
  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.246+59_246+60insCATGTG
  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.198+59_198+60insCATGTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+59_150+60insCATGTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+59_*200+60insCATGTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+766_169+767insCATGTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+59_246+60insCATGTG
  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.246+59_246+60insCATGTG
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 1.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 9.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 20707
  bin: 1.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17789
  bin: 7.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 2
num of homozygotes: 2
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

19-7704749-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704749
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704749
    reference: chr 19
allele count: 3
allele frequency: 3.941456236697586e-5
allele num: 76114
alternate allele: C
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.198+56T>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.246+56T>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.246+56T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+56T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+56T>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.246+56T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2171T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.339T>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.246+56T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+763T>C
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20860
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-7704749-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704749
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704749
    reference: chr 19
allele count: 2
allele frequency: 2.627637491131724e-5
allele num: 76114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+56T>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.339T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+56T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+56T>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.198+56T>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.246+56T>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.246+56T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2171T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+763T>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.246+56T>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

19-7704750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704750
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704750
    reference: chr 19
allele count: 3
allele frequency: 3.870368459077304e-5
allele num: 77512
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.246+57G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+764G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+57G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+57G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+57G>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.246+57G>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.340G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2170G>A
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.198+57G>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.246+57G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21055
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

19-7704750-G-GTGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704750
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704754
    reference: chr 19
allele count: 1
allele frequency: 1.290122819692435e-5
allele num: 77512
alternate allele: GTGCA
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.246+59_246+60insCATG
  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.246+59_246+60insCATG
  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.246+59_246+60insCATG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+766_169+767insCATG
  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.246+59_246+60insCATG
  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.198+59_198+60insCATG
  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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.342_343insCATG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+59_*200+60insCATG
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2168_52-2167insCATG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+59_150+60insCATG
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18225
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21055
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32650
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

19-7704751-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704751
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704751
    reference: chr 19
allele count: 3
allele frequency: 3.969409087300537e-5
allele num: 75578
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.246+58T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+58T>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.341T>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.246+58T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+58T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+58T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2169T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+58T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+765T>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.198+58T>C
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

19-7704752-G-GCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704752
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704754
    reference: chr 19
allele count: 7
allele frequency: 9.310986964618249e-5
allele num: 75180
alternate allele: GCA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+59_*200+60insCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.342_343insCA
  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.198+59_198+60insCA
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2168_52-2167insCA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.246+59_246+60insCA
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+59_150+60insCA
  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.246+59_246+60insCA
  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.246+59_246+60insCA
  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.246+59_246+60insCA
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+766_169+767insCA
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 21023
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18526
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

19-7704754-G-GTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704754
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704756
    reference: chr 19
allele count: 2
allele frequency: 2.791035194953809e-5
allele num: 71658
alternate allele: GTA
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.246+63_246+64dupAT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+63_150+64dupAT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2164_52-2163dupAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+63_246+64dupAT
  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.198+63_198+64dupAT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+63_*200+64dupAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.346_347dupAT
  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.246+63_246+64dupAT
  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.246+63_246+64dupAT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+770_169+771dupAT
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20983
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4805
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

19-7704754-GTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704754
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704752
    reference: chr 19
allele count: 29
allele frequency: 4.047001032683022e-4
allele num: 71658
alternate allele: G
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.246+63_246+64delAT
  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.246+63_246+64delAT
  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.246+63_246+64delAT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2164_52-2163delAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+770_169+771delAT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+63_*200+64delAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+63_246+64delAT
  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.198+63_198+64delAT
  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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.346_347delAT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+63_150+64delAT
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20983
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18726
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
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: GTA
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

19-7704756-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704756
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704756
    reference: chr 19
allele count: 20
allele frequency: 2.896871378910776e-4
allele num: 69040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+63A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+770A>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.246+63A>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.246+63A>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.346A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2164A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+63A>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.246+63A>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.198+63A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+63A>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20771
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18968
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-7704756-ATGTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704756
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704752
    reference: chr 19
allele count: 17
allele frequency: 2.46234067207416e-4
allele num: 69040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+773_169+776delTCTG
  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.246+66_246+69delTCTG
  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.246+66_246+69delTCTG
  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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.349_352delTCTG
  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.246+66_246+69delTCTG
  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.246+66_246+69delTCTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+66_*200+69delTCTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+66_150+69delTCTG
  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.198+66_198+69delTCTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2161_52-2158delTCTG
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18968
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20771
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: ATGTC
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-7704760-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704760
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704760
    reference: chr 19
allele count: 1
allele frequency: 1.48822811560556e-5
allele num: 67194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+774C>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.198+67C>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.350C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+67C>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.246+67C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+67C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+67C>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2160C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.246+67C>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.246+67C>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19384
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20444
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7001
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

19-7704768-ATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704768
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704766
    reference: chr 19
allele count: 2
allele frequency: 3.6285786857288e-5
allele num: 55118
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2149_52-2148delTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+78_150+79delTG
  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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.361_362delTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+78_*200+79delTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+78_246+79delTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+785_169+786delTG
  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.198+78_198+79delTG
  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.246+78_246+79delTG
  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.246+78_246+79delTG
  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.246+78_246+79delTG
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19933
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16768
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: ATG
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

19-7704769-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704769
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704769
    reference: chr 19
allele count: 2
allele frequency: 3.607373471375491e-5
allele num: 55442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+76T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+76T>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.359T>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.246+76T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2151T>C
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.198+76T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+783T>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.246+76T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+76T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.246+76T>C
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-7704774-T-TTGCATGTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704774
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704782
    reference: chr 19
allele count: 8
allele frequency: 1.469561703222014e-4
allele num: 54438
alternate allele: TTGCATGTG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  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
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.374_381dupGCATGTGT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  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
  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
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20044
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16229
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14316
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-7704774-TTGCATGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704774
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704766
    reference: chr 19
allele count: 2
allele frequency: 3.673904258055035e-5
allele num: 54438
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.374_381delGCATGTGT
  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
  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
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  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
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28483
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: TTGCATGTG
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

19-7704774-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704774
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704774
    reference: chr 19
allele count: 1
allele frequency: 1.836952129027517e-5
allele num: 54438
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2146T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+81T>G
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.198+81T>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.364T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+81T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+788T>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.246+81T>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.246+81T>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.246+81T>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.246+81T>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16229
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20044
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14316
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-7704777-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704777
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704777
    reference: chr 19
allele count: 2
allele frequency: 4.369101712687871e-5
allele num: 45776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+84C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+791C>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.246+84C>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.367C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+84C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+84C>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2143C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+84C>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.246+84C>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.198+84C>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-7704777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704777
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704777
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 45776
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.198+84C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+791C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2143C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+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.246+84C>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.367C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+84C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  hgvsc: ENST00000221283.5:c.246+84C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+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.246+84C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19712
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-7704778-ATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704778
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704776
    reference: chr 19
allele count: 4
allele frequency: 8.709663371510691e-5
allele num: 45926
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.246+90_246+91delTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2137_52-2136delTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+90_246+91delTG
  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.198+90_198+91delTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+797_169+798delTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+90_*200+91delTG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.373_374delTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+90_150+91delTG
  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.246+90_246+91delTG
  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.246+90_246+91delTG
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 16266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19752
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12961
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23232
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: ATG
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

19-7704779-TGTGTGCATGTGTATAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704779
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704763
    reference: chr 19
allele count: 1
allele frequency: 2.168538838530598e-5
allele num: 46114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  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
  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
  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
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12879
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: TGTGTGCATGTGTATAC
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-7704783-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704783
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704783
    reference: chr 19
allele count: 1
allele frequency: 2.249820014398848e-5
allele num: 44448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.373T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+797T>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.198+90T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+90T>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.246+90T>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.246+90T>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.246+90T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+90T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2137T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+90T>C
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12086
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19471
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20689
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-7704784-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704784
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704784
    reference: chr 19
allele count: 2
allele frequency: 4.502881844380403e-5
allele num: 44416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+91G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+91G>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2136G>C
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.198+91G>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.246+91G>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+798G>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.374G>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.246+91G>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.246+91G>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.246+91G>C
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12074
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

19-7704786-ATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704786
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704784
    reference: chr 19
allele count: 6
allele frequency: 1.429115853658536e-4
allele num: 41984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.380_381delGT
  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.246+97_246+98delGT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2130_52-2129delGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+97_150+98delGT
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+97_*200+98delGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+804_169+805delGT
  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.246+97_246+98delGT
  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.198+97_198+98delGT
  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.246+97_246+98delGT
  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.246+97_246+98delGT
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18869
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11088
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: ATG
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-7704787-TGTGTATAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704787
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704779
    reference: chr 19
allele count: 1
allele frequency: 2.684996241005263e-5
allele num: 37244
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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.382_389delATACGTGT
  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
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  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
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18533
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25569
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: TGTGTATAC
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-7704789-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704789
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704789
    reference: chr 19
allele count: 1
allele frequency: 2.681252681252681e-5
allele num: 37296
alternate allele: G
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.198+96T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+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.246+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.246+96T>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.379T>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.246+96T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+96T>G
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.246+96T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+803T>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2131T>G
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

19-7704791-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704791
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704791
    reference: chr 19
allele count: 1
allele frequency: 2.664961091568063e-5
allele num: 37524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+98T>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.246+98T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+98T>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.381T>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.246+98T>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.246+98T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+98T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+805T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2129T>C
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.198+98T>C
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

19-7704791-T-TTTCATGGCGGCTGGGAGTTGGGGGCCGGGCTGGGCGTCCGAGCACCTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704791
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704839
    reference: chr 19
allele count: 1
allele frequency: 2.664961091568063e-5
allele num: 37524
alternate allele: TTTCATGGCGGCTGGGAGTTGGGGGCCGGGCTGGGCGTCCGAGCACCTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  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
  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
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 18514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26034
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

19-7704792-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704792
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704792
    reference: chr 19
allele count: 2
allele frequency: 5.775339301183944e-5
allele num: 34630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+99A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+99A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+99A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2128A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+99A>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.198+99A>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.382A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+806A>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.246+99A>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.246+99A>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18381
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27359
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-7704793-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704793
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704793
    reference: chr 19
allele count: 155
allele frequency: 4.443043054520438e-3
allele num: 34886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.383T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2127T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+100T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+100T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+807T>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.246+100T>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+100T>C
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.198+100T>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.246+100T>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.246+100T>C
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21922
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 1.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18374
  bin: 7.5e0
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 6.25e1
  variant carriers: 3
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

19-7704795-C-CGTGTGCATGTGTCCATGTGTATGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704795
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704819
    reference: chr 19
allele count: 1
allele frequency: 2.984005729291e-5
allele num: 33512
alternate allele: CGTGTGCATGTGTCCATGTGTATGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  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
  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
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

19-7704795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704795
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704795
    reference: chr 19
allele count: 18
allele frequency: 5.371210312723801e-4
allele num: 33512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.385C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+809C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+102C>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.198+102C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+102C>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.246+102C>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.246+102C>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.246+102C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2125C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+102C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18332
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22265
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28342
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-7704796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704796
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704796
    reference: chr 19
allele count: 3
allele frequency: 9.651888552860177e-5
allele num: 31082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+103G>A
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.198+103G>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.246+103G>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.246+103G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+103G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2124G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+810G>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.386G>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.246+103G>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.246+103G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18181
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3637
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

19-7704802-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704802
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704802
    reference: chr 19
allele count: 1
allele frequency: 3.843197540353574e-5
allele num: 26020
alternate allele: G
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.198+109A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+109A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  hgvsc: ENST00000441779.2:c.246+109A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2118A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+109A>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.246+109A>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.392A>G
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+816A>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.246+109A>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.246+109A>G
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30405
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

19-7704804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704804
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704804
    reference: chr 19
allele count: 1
allele frequency: 3.89377774316642e-5
allele num: 25682
alternate allele: A
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.198+111G>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.246+111G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+818G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+111G>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.394G>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.246+111G>A
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2116G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+111G>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.246+111G>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.246+111G>A
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17128
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

19-7704808-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704808
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704808
    reference: chr 19
allele count: 1
allele frequency: 4.094333442515558e-5
allele num: 24424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.398C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+115C>T
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.246+115C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+115C>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.198+115C>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.246+115C>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.246+115C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2112C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+115C>T
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+822C>T
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

19-7704810-ATGTGTATGTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704810
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704800
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 22832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  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
  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
  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
  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: ENST00000595181
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000221283
  ensembl transcript: ENST00000221283
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15186
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: ATGTGTATGTG
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-7704814-GTATGTGTGTGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704814
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704802
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  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
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  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
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 14159
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26049
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: GTATGTGTGTGCA
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

19-7704814-GTATGTGTGTGCATGTGTGTGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704814
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704792
    reference: chr 19
allele count: 2
allele frequency: 9.118263882556761e-5
allele num: 21934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471327
  ensembl transcript: ENST00000597068
  gene symbol: STXBP2
  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
  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
  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
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14159
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: GTATGTGTGTGCATGTGTGTGCA
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-7704815-T-TATGTGTGTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704815
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704825
    reference: chr 19
allele count: 1
allele frequency: 4.562043795620438e-5
allele num: 21920
alternate allele: TATGTGTGTGC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471585
  ensembl transcript: ENST00000599737
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  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: ENST00000595181
  gene symbol: STXBP2
  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
  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
  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
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18806
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-7704815-TATGTGTGTGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704815
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704805
    reference: chr 19
allele count: 5863
allele frequency: 2.674726277372263e-1
allele num: 21920
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000413606
  ensembl transcript: ENST00000441779
  gene symbol: STXBP2
  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
  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
  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: ENST00000595181
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  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
  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
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.25e1
  variant carriers: 662
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.25e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 277
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 12772
  bin: 7.5e0
  variant carriers: 3560
genotype depth: GenotypeDepth
  all individuals: 23512
  bin: 2.5e0
  variant carriers: 2783
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 9.75e1
  variant carriers: 1631
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 189
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 1.25e1
  variant carriers: 1727
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 178
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 8336
  bin: 9.75e1
  variant carriers: 7344
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 83
num of homozygotes: 870
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: TATGTGTGTGC
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-7704816-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704816
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 9818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000409471
  ensembl transcript: ENST00000414284
  gene symbol: STXBP2
  hgvsc: ENST00000414284.2:c.246+123A>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.246+123A>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2104A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+123A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+123A>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.246+123A>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.198+123A>C
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+830A>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.246+123A>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: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.406A>C
  variant of: http://identifiers.org/hgnc/11445
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13729
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-7704816-ATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704814
    reference: chr 19
allele count: 4
allele frequency: 4.074149521287431e-4
allele num: 9818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076944
  ensembl transcript: ENST00000595181
  gene symbol: STXBP2
  hgvsc: ENST00000595181.1:n.413_414delTG
  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.246+130_246+131delTG
  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.246+130_246+131delTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000469553
  ensembl transcript: ENST00000595866
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000595866.1:c.*200+130_*200+131delTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000471161
  ensembl transcript: ENST00000595950
  gene symbol: STXBP2
  hgvsc: ENST00000595950.1:c.169+837_169+838delTG
  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.246+130_246+131delTG
  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.198+130_198+131delTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076944
  ensembl protein: ENSP00000470313
  ensembl transcript: ENST00000593535
  gene symbol: STXBP2
  hgvsc: ENST00000593535.1:c.150+130_150+131delTG
  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.246+130_246+131delTG
  variant of: http://identifiers.org/hgnc/11445
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268400
  ensembl protein: ENSP00000472796
  ensembl transcript: ENST00000598664
  gene symbol: CTD-3214H19.4
  hgvsc: ENST00000598664.1:c.52-2097_52-2096delTG
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18330
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13729
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: ATG
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-7704816-ATGTGTGTGCATGTGTGTGCATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7704816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 7704794
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 9818
alternate allele: A
canonical: false
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9708
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: ATGTGTGTGCATGTGTGTGCATG

GenotypeQuality
all individuals: 173
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18148
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2596
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3948
bin: 9.75e1
variant carriers: 12

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.348314606741573e-3
allele num: 8900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.665e0

FS
type: SiteQuality
SIO_000300: 4.098e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 1.484318e6

MQ
type: SiteQuality
SIO_000300: 5.904e1

QD
type: SiteQuality
SIO_000300: 1.18e1

GenotypeQuality
all individuals: 22380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18148
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2596
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3948
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 6.75e1
variant carriers: 0

African
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: 7244
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.075500107550011e-4
allele num: 9298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.665e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.484318e6

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

FS
type: SiteQuality
SIO_000300: 4.098e0

QD
type: SiteQuality
SIO_000300: 1.18e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

GenotypeQuality
all individuals: 2426
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2947
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22506
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 812
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 493
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 325
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.471095772217428e-4
allele num: 13908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 6.06313236575846e-4
allele num: 52778
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.28875246656435e-4
allele num: 9122
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.366120218579235e-3
allele num: 732
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.136621959536258e-4
allele num: 8798
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.179437169127891e-4
allele num: 7178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 46
allele frequency: 9.188973232121454e-3
allele num: 5006
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 6.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.485523e6

GenotypeQuality
all individuals: 479
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3950
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 16487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24053
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7102
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.169668040789759e-4
allele num: 9218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.265005662514156e-4
allele num: 8830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.751092707614447e-5
allele num: 52164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4952
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.454345e6

QD
type: SiteQuality
SIO_000300: 1.421e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.783e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 452
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2578
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3950
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 660
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16931
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.5e0
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GenotypeQuality
all individuals: 2636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 1364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24210
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.689941556444171e-5
allele num: 52016
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.434782608695652e-4
allele num: 9200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.447387465624548e-4
allele num: 13818
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.696e0

QD
type: SiteQuality
SIO_000300: 1.431e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.453093e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

GenotypeQuality
all individuals: 4226
bin: 9.75e1
variant carriers: 291

GenotypeQuality
all individuals: 2636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2586
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 24692
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1334
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.853881278538813e-4
allele num: 7008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 123
allele frequency: 2.380952380952381e-3
allele num: 51660
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.356033105851605e-4
allele num: 13774
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 9.562841530054645e-3
allele num: 732
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.396570674873599e-4
allele num: 9098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 159
allele frequency: 3.242251223491028e-2
allele num: 4904
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8766
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

FS
type: SiteQuality
SIO_000300: 6.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.711e0

QD
type: SiteQuality
SIO_000300: 1.403e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 1.443567e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
all individuals: 417
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4226
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 695
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7008
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.807200929152149e-5
allele num: 51660
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 1.443567e6

FS
type: SiteQuality
SIO_000300: 6.25e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.711e0

QD
type: SiteQuality
SIO_000300: 1.403e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

GenotypeQuality
all individuals: 485
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26986
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
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variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2707
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variant carriers: 0

GenotypeQuality
all individuals: 880
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variant carriers: 0

GenotypeQuality
all individuals: 1197
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variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
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variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.483854942871336e-4
allele num: 8052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.107341197454295e-5
allele num: 49338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4556
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.389732e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

QD
type: SiteQuality
SIO_000300: 1.202e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.676e0

GenotypeQuality
all individuals: 2656
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
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variant carriers: 0

GenotypeQuality
all individuals: 609
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GenotypeQuality
all individuals: 410
bin: 8.25e1
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GenotypeQuality
all individuals: 402
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
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GenotypeQuality
all individuals: 13105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
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GenotypeQuality
all individuals: 3346
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
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GenotypeQuality
all individuals: 2197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3886
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.026999635140066e-5
allele num: 49334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13430
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.92e1

VQSLOD
type: SiteQuality
SIO_000300: -1.254e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.882e0

DP
type: SiteQuality
SIO_000300: 1.386823e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.483e0

QD
type: SiteQuality
SIO_000300: 1.599e1

GenotypeQuality
all individuals: 499
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 1.25e1
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GenotypeQuality
all individuals: 435
bin: 4.75e1
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GenotypeQuality
all individuals: 557
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GenotypeQuality
all individuals: 287
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GenotypeQuality
all individuals: 3353
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
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GenotypeQuality
all individuals: 2190
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GenotypeQuality
all individuals: 230
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GenotypeQuality
all individuals: 605
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variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
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GenotypeQuality
all individuals: 3882
bin: 9.75e1
variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.060419035244437e-5
allele num: 49256
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

DP
type: SiteQuality
SIO_000300: 1.387006e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.626e0

QD
type: SiteQuality
SIO_000300: 1.46e1

GenotypeQuality
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2521
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 570
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13396
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3958
bin: 9.75e1
variant carriers: 130

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.050104555332322e-4
allele num: 48778
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.300728407908429e-4
allele num: 7688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.49034575662326e-4
allele num: 4454
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.326611833377554e-4
allele num: 7538
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 2.442748091603053e-3
allele num: 6550
num of homozygotes: 2

Other
type: Population
allele count: 1
allele frequency: 1.449275362318841e-3
allele num: 690
num of homozygotes: 0

South Asian
type: Population
allele count: 103
allele frequency: 7.704967085577498e-3
allele num: 13368
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 5.59e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

DP
type: SiteQuality
SIO_000300: 1.392605e6

GenotypeQuality
all individuals: 3516
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 436
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 593
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2108
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.24687656171914e-5
allele num: 48024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.389e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

DP
type: SiteQuality
SIO_000300: 1.35993e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

QD
type: SiteQuality
SIO_000300: 7.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

GenotypeQuality
all individuals: 297
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3817
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1212
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2595
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28907
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10523
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.136660826460408e-5
allele num: 46802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6656
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.711e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

QD
type: SiteQuality
SIO_000300: 1.973e1

DP
type: SiteQuality
SIO_000300: 1.333444e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1901
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2753
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3950
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4320
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.308047391906447e-4
allele num: 12998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.14638334406525e-5
allele num: 46590
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

DP
type: SiteQuality
SIO_000300: 1.331013e6

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.327e1

FS
type: SiteQuality
SIO_000300: 1.1293e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQ
type: SiteQuality
SIO_000300: 5.711e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.538e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

GenotypeQuality
all individuals: 284
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2753
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1901
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3950
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 575
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 6.325110689437065e-4
allele num: 6324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46590
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 1.1293e1

VQSLOD
type: SiteQuality
SIO_000300: -1.538e0

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

DP
type: SiteQuality
SIO_000300: 1.331013e6

MQ
type: SiteQuality
SIO_000300: 5.711e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

GenotypeQuality
all individuals: 3820
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2621
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3540
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29456
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.34192037470726e-4
allele num: 12810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

DP
type: SiteQuality
SIO_000300: 1.307946e6

QD
type: SiteQuality
SIO_000300: 1.471e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.787e0

FS
type: SiteQuality
SIO_000300: 2.4536e1

MQRankSum
type: SiteQuality
SIO_000300: -1.307e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 562
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 27

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 18

GenotypeQuality
all individuals: 9223
bin: 6.25e1
variant carriers: 17

GenotypeQuality
all individuals: 2385
bin: 3.25e1
variant carriers: 27

GenotypeQuality
all individuals: 3361
bin: 2.75e1
variant carriers: 35

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 25

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 12

GenotypeQuality
all individuals: 568
bin: 7.25e1
variant carriers: 20

GenotypeQuality
all individuals: 445
bin: 1.25e1
variant carriers: 8

GenotypeQuality
all individuals: 29028
bin: 2.25e1
variant carriers: 35

GenotypeQuality
all individuals: 1928
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 22

GenotypeQuality
all individuals: 6984
bin: 9.75e1
variant carriers: 3322

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 21

Latino
type: Population
allele count: 1351
allele frequency: 1.884765625e-1
allele num: 7168
num of homozygotes: 88

South Asian
type: Population
allele count: 19
allele frequency: 1.484143102640213e-3
allele num: 12802
num of homozygotes: 0

African
type: Population
allele count: 1050
allele frequency: 1.37976346911958e-1
allele num: 7610
num of homozygotes: 70

European (Finnish)
type: Population
allele count: 176
allele frequency: 4.147031102733271e-2
allele num: 4244
num of homozygotes: 6

East Asian
type: Population
allele count: 237
allele frequency: 3.87761780104712e-2
allele num: 6112
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 235
allele frequency: 5.170972142762839e-3
allele num: 45446
num of homozygotes: 0

Other
type: Population
allele count: 24
allele frequency: 3.625377643504532e-2
allele num: 662
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.177e1

VQSLOD
type: SiteQuality
SIO_000300: -1.298e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.489e0

FS
type: SiteQuality
SIO_000300: 2.661e0

QD
type: SiteQuality
SIO_000300: 7.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.44e-2

DP
type: SiteQuality
SIO_000300: 1.285027e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

GenotypeQuality
all individuals: 3705
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.382465057179161e-4
allele num: 12592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4084
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.055e0

DP
type: SiteQuality
SIO_000300: 1.247613e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

QD
type: SiteQuality
SIO_000300: 1.96e0

FS
type: SiteQuality
SIO_000300: 1.861e1

MQRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQ
type: SiteQuality
SIO_000300: 5.447e1

GenotypeQuality
all individuals: 1837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31013
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 407
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.443418013856813e-4
allele num: 6928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4084
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.344086021505376e-4
allele num: 7440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43800
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.96e0

FS
type: SiteQuality
SIO_000300: 1.861e1

MQRankSum
type: SiteQuality
SIO_000300: -1.495e0

VQSLOD
type: SiteQuality
SIO_000300: -3.055e0

MQ
type: SiteQuality
SIO_000300: 5.447e1

DP
type: SiteQuality
SIO_000300: 1.247613e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

GenotypeQuality
all individuals: 1843
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.866180048661801e-4
allele num: 4110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.449e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.484e0

DP
type: SiteQuality
SIO_000300: 1.246116e6

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.943e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 2804
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6918
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.957981855801369e-5
allele num: 12566
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.655e1

DP
type: SiteQuality
SIO_000300: 1.245307e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

GenotypeQuality
all individuals: 3850
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.979572294924992e-5
allele num: 12532
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.460706982179375e-4
allele num: 6846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 4.617018329562768e-4
allele num: 43318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4024
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.355748373101952e-4
allele num: 7376
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 6.837606837606838e-4
allele num: 5850
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.572327044025157e-3
allele num: 636
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.043e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

FS
type: SiteQuality
SIO_000300: 2.606e0

QD
type: SiteQuality
SIO_000300: 1.667e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 1.243694e6

GenotypeQuality
all individuals: 405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3443
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
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variant carriers: 0

GenotypeQuality
all individuals: 3604
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
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variant carriers: 0

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

GenotypeQuality
all individuals: 1710
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
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GenotypeQuality
all individuals: 544
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GenotypeQuality
all individuals: 244
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GenotypeQuality
all individuals: 2699
bin: 3.25e1
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GenotypeQuality
all individuals: 342
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4516
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.38333571666905e-5
allele num: 41958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3848
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-2

QD
type: SiteQuality
SIO_000300: 1.668e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.218649e6

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 31158
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1710
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1651
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 325
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1173
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 342
bin: 4.75e1
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GenotypeQuality
all individuals: 430
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 318
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 463
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3604
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 17

GenotypeQuality
all individuals: 405
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GenotypeQuality
all individuals: 294
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variant carriers: 18

GenotypeQuality
all individuals: 566
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2699
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4516
bin: 9.75e1
variant carriers: 784

European (Non-Finnish)
type: Population
allele count: 485
allele frequency: 1.155917822584489e-2
allele num: 41958
num of homozygotes: 5

African
type: Population
allele count: 116
allele frequency: 1.612903225806452e-2
allele num: 7192
num of homozygotes: 0

Latino
type: Population
allele count: 81
allele frequency: 1.251545117428925e-2
allele num: 6472
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.790189760114572e-4
allele num: 5586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 7.796257796257797e-4
allele num: 3848
num of homozygotes: 0

South Asian
type: Population
allele count: 61
allele frequency: 4.952102614060724e-3
allele num: 12318
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.639344262295082e-2
allele num: 610
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e0

QD
type: SiteQuality
SIO_000300: 1.668e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 1.218649e6

GenotypeQuality
all individuals: 325
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 597
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GenotypeQuality
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GenotypeQuality
all individuals: 1710
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 244
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GenotypeQuality
all individuals: 294
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GenotypeQuality
all individuals: 566
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GenotypeQuality
all individuals: 463
bin: 5.75e1
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GenotypeQuality
all individuals: 4516
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7192
num of homozygotes: 0

East Asian
type: Population
allele count: 24
allele frequency: 4.296455424274973e-3
allele num: 5586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.38333571666905e-5
allele num: 41958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.41e0

QD
type: SiteQuality
SIO_000300: 1.668e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 1.218649e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1298
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 294
bin: 4.25e1
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GenotypeQuality
all individuals: 3889
bin: 9.75e1
variant carriers: 250

GenotypeQuality
all individuals: 396
bin: 8.25e1
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GenotypeQuality
all individuals: 1644
bin: 6.75e1
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GenotypeQuality
all individuals: 225
bin: 5.75e1
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GenotypeQuality
all individuals: 1115
bin: 3.75e1
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GenotypeQuality
all individuals: 228
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GenotypeQuality
all individuals: 31550
bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2625
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 588
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3545
bin: 2.75e1
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GenotypeQuality
all individuals: 322
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GenotypeQuality
all individuals: 6476
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 7.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 74
allele frequency: 1.80991048280585e-3
allele num: 40886
num of homozygotes: 1

Latino
type: Population
allele count: 4
allele frequency: 6.387735547748323e-4
allele num: 6262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3844
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.683501683501683e-3
allele num: 594
num of homozygotes: 0

African
type: Population
allele count: 151
allele frequency: 2.133371008759537e-2
allele num: 7078
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 6.564910553093714e-4
allele num: 12186
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

FS
type: SiteQuality
SIO_000300: 5.077e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.637e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

DP
type: SiteQuality
SIO_000300: 1.189175e6

QD
type: SiteQuality
SIO_000300: 8.82e0

MQ
type: SiteQuality
SIO_000300: 5.093e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

GenotypeQuality
all individuals: 555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2617
bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 2.464268112370626e-4
allele num: 12174
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4337e1

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.971e1

DP
type: SiteQuality
SIO_000300: 1.222188e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.894283476898982e-5
allele num: 40864
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12174
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

ClippingRankSum
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SIO_000300: 3.1e-2

ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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FS
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InbreedingCoeff
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SIO_000300: 1.4e-2

MQ
type: SiteQuality
SIO_000300: 4.971e1

VQSLOD
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7236
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.44180367898421e-4
allele num: 12286
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 41630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

BaseQRankSum
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FS
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QD
type: SiteQuality
SIO_000300: 1.376e1

InbreedingCoeff
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.495e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41630
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7236
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.563966218329684e-4
allele num: 6394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12286
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.495e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

DP
type: SiteQuality
SIO_000300: 1.198645e6

FS
type: SiteQuality
SIO_000300: 6.149e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.739e0

QD
type: SiteQuality
SIO_000300: 1.376e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.470355731225296e-4
allele num: 12144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40528
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

DP
type: SiteQuality
SIO_000300: 1.180794e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.482e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.858e0

QD
type: SiteQuality
SIO_000300: 1.219e1

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.480897092388608e-5
allele num: 40308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12118
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 3.288391976323578e-4
allele num: 6082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 3
allele frequency: 4.250495891187305e-4
allele num: 7058
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
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European (Finnish)
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allele count: 1
allele frequency: 2.73224043715847e-4
allele num: 3660
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QD
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SIO_000300: 3.15e0

MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.8813e1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.965408805031447e-4
allele num: 5088
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.535625538820427e-5
allele num: 39438
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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SIO_000300: 6.37e-1

VQSLOD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

ClippingRankSum
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SIO_000300: 1.06e-1

QD
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GenotypeQuality
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GenotypeQuality
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variant carriers: 30

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 24
allele frequency: 3.830194701563996e-3
allele num: 6266
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.071251077640854e-5
allele num: 39438
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 6.252605252188412e-4
allele num: 4798
num of homozygotes: 0

Other
type: Population
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: 1.31e-2

ClippingRankSum
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SIO_000300: 1.06e-1

MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 8.438818565400843e-5
allele num: 11850
num of homozygotes: 0

Latino
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allele frequency: 6.708407871198568e-4
allele num: 4472
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European (Finnish)
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allele count: 1
allele frequency: 2.9708853238265e-4
allele num: 3366
num of homozygotes: 0

African
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allele count: 14
allele frequency: 2.338009352037408e-3
allele num: 5988
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Other
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.633658151171978e-5
allele num: 37970
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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FS
type: SiteQuality
SIO_000300: 7.35e-1

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.17e-1

VQSLOD
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SIO_000300: 4.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.687121411640769e-4
allele num: 37970
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 2.23613595706619e-4
allele num: 4472
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Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4848
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European (Finnish)
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allele count: 2
allele frequency: 5.941770647653001e-4
allele num: 3366
num of homozygotes: 0

South Asian
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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FS
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MQ
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SIO_000300: 5.887e1

BaseQRankSum
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SIO_000300: 1.04e0

InbreedingCoeff
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SIO_000300: 1.58e-2

ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 11656
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3212
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African
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allele count: 1
allele frequency: 1.622849724115547e-4
allele num: 6162
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MQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: 6.6e-1

VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: 1.53e-2

FS
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MQ
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BaseQRankSum
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SIO_000300: -8.110000000000001e-1

ReadPosRankSum
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QD
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SIO_000300: 2.615e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10748
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.848428835489834e-4
allele num: 5410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3220
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.43878954607978e-5
allele num: 29080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 3.358e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 1.611e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

DP
type: SiteQuality
SIO_000300: 1.038356e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.426065506372482e-5
allele num: 29188
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2558
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.281603861147207e-5
allele num: 10774
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

QD
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DP
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.55e-2

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
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SIO_000300: -3.604e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.095996646405366e-4
allele num: 28626
num of homozygotes: 0

South Asian
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Latino
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num of homozygotes: 0

East Asian
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European (Finnish)
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allele count: 2
allele frequency: 8.045052292839903e-4
allele num: 2486
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African
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allele frequency: 0.0e0
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
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QD
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FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 1
allele frequency: 9.365049634763064e-5
allele num: 10678
num of homozygotes: 0

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

Latino
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.493327744008943e-5
allele num: 28626
num of homozygotes: 0

Other
type: Population
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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DP
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MQ
type: SiteQuality
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FS
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QD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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European (Finnish)
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Latino
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Other
type: Population
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European (Non-Finnish)
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allele frequency: 3.493327744008943e-5
allele num: 28626
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQRankSum
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MQ
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FS
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DP
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23656
num of homozygotes: 0

African
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allele count: 2
allele frequency: 4.242681374628765e-4
allele num: 4714
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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SIO_000300: 2.87e-2

FS
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QD
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MQRankSum
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SIO_000300: 9.370000000000001e-1

BaseQRankSum
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SIO_000300: -1.931e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4714
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2212
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23656
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1972
num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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QD
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FS
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MQRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -1.931e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
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SIO_000300: 9.79508e5

MQ
type: SiteQuality
SIO_000300: 5.695e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

East Asian
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allele frequency: 0.0e0
allele num: 2850
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2010
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23710
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2208
num of homozygotes: 0

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

South Asian
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allele count: 4
allele frequency: 3.992812936713915e-4
allele num: 10018
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.63e-1

MQRankSum
type: SiteQuality
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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DP
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SIO_000300: 9.77863e5

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.58e-2

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4728
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.964129135113592e-5
allele num: 10036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23830
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.732e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.7641e5

MQ
type: SiteQuality
SIO_000300: 5.245e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.51e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

QD
type: SiteQuality
SIO_000300: 2.72e0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 4.901960784313725e-4
allele num: 2040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22822
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2696
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.75e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

DP
type: SiteQuality
SIO_000300: 9.62622e5

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2692
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 8.782715615668365e-5
allele num: 22772
num of homozygotes: 0

Other
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num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4414
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1790
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21422
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 372
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.185567010309278e-4
allele num: 9700
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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South Asian
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Other
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.344164172723386e-5
allele num: 18712
num of homozygotes: 0

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

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

African
type: Population
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allele frequency: 2.485089463220676e-4
allele num: 4024
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: -3.6e-1

ReadPosRankSum
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DP
type: SiteQuality
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VQSLOD
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.69e-2

QD
type: SiteQuality
SIO_000300: 2.642e1

MQRankSum
type: SiteQuality
SIO_000300: -4.259e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1498
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4064
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.064962726304579e-4
allele num: 9390
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 18790
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 9.12673e5

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ReadPosRankSum
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SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 1.2515e1

InbreedingCoeff
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SIO_000300: 3.63e-2

QD
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BaseQRankSum
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MQ
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SIO_000300: 5.851e1

VQSLOD
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SIO_000300: -1.402e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele count: 1
allele frequency: 2.460629921259842e-4
allele num: 4064
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.2515e1

ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.851e1

DP
type: SiteQuality
SIO_000300: 9.12673e5

QD
type: SiteQuality
SIO_000300: 2.23e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1778
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.620689655172414e-4
allele num: 1160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.837030119075415e-5
allele num: 17132
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.105e1

DP
type: SiteQuality
SIO_000300: 8.9714e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.738525730180807e-4
allele num: 17256
num of homozygotes: 0

African
type: Population
allele count: 130
allele frequency: 3.39425587467363e-2
allele num: 3830
num of homozygotes: 1

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

Latino
type: Population
allele count: 3
allele frequency: 2.546689303904924e-3
allele num: 1178
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 7.76914539400666e-3
allele num: 1802
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.44069640914037e-4
allele num: 9190
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 7.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -4.771e-1

DP
type: SiteQuality
SIO_000300: 8.96651e5

MQ
type: SiteQuality
SIO_000300: 5.604e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 3.333333333333334e-3
allele num: 300
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1068
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
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SIO_000300: -3.2e-1

MQRankSum
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ReadPosRankSum
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FS
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 20

East Asian
type: Population
allele count: 1
allele frequency: 5.889281507656066e-4
allele num: 1698
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1212
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.73224043715847e-4
allele num: 3660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.214329083181542e-4
allele num: 16470
num of homozygotes: 0

South Asian
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allele count: 13
allele frequency: 1.427943760984183e-3
allele num: 9104
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 3.333333333333334e-3
allele num: 300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1068
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 2.14e0

InbreedingCoeff
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SIO_000300: 4.18e-2

DP
type: SiteQuality
SIO_000300: 8.87145e5

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.333333333333333e-4
allele num: 15000
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Other
type: Population
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East Asian
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allele count: 0
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African
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Latino
type: Population
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allele frequency: 1.11358574610245e-3
allele num: 898
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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MQ
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SIO_000300: 5.622e1

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

GenotypeQuality
all individuals: 2066
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.375209380234506e-5
allele num: 11940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

DP
type: SiteQuality
SIO_000300: 8.3566e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.85e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: -1.618e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.308e1

GenotypeQuality
all individuals: 30427
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.558712769599452e-5
allele num: 11684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.93e-2

MQ
type: SiteQuality
SIO_000300: 5.315e1

DP
type: SiteQuality
SIO_000300: 8.33439e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 1.0084e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

VQSLOD
type: SiteQuality
SIO_000300: -8.260999999999999e-1

QD
type: SiteQuality
SIO_000300: 7.99e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.474635163307853e-4
allele num: 2878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.91e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

FS
type: SiteQuality
SIO_000300: 2.011e0

MQ
type: SiteQuality
SIO_000300: 6.09e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

DP
type: SiteQuality
SIO_000300: 8.24476e5

QD
type: SiteQuality
SIO_000300: 1.995e1

VQSLOD
type: SiteQuality
SIO_000300: -1.096e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.12101e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.35e-2

QD
type: SiteQuality
SIO_000300: 3.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -3.907e-1

MQ
type: SiteQuality
SIO_000300: 6.118e1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.02391e5

QD
type: SiteQuality
SIO_000300: 3.48e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.341e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.16e-2

MQ
type: SiteQuality
SIO_000300: 5.481e1

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.11999152003392e-4
allele num: 9434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.341e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

MQ
type: SiteQuality
SIO_000300: 5.481e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.16e-2

DP
type: SiteQuality
SIO_000300: 8.02391e5

QD
type: SiteQuality
SIO_000300: 3.48e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 116
bin: 3.75e1
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GenotypeQuality
all individuals: 8336
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.059322033898305e-4
allele num: 9440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.124e0

MQ
type: SiteQuality
SIO_000300: 5.271e1

QD
type: SiteQuality
SIO_000300: 5.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.662e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 7.50779e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 312
bin: 3.25e1
variant carriers: 97

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 437

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 61

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 66

GenotypeQuality
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variant carriers: 62

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 1453
bin: 1.75e1
variant carriers: 817

GenotypeQuality
all individuals: 318
bin: 8.25e1
variant carriers: 61

GenotypeQuality
all individuals: 337
bin: 7.75e1
variant carriers: 28

Latino
type: Population
allele count: 74
allele frequency: 1.554621848739496e-1
allele num: 476
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 2724
allele frequency: 2.885593220338983e-1
allele num: 9440
num of homozygotes: 429

South Asian
type: Population
allele count: 2124
allele frequency: 2.626112759643917e-1
allele num: 8088
num of homozygotes: 315

European (Finnish)
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allele count: 53
allele frequency: 1.977611940298507e-1
allele num: 268
num of homozygotes: 7

African
type: Population
allele count: 725
allele frequency: 2.707244212098581e-1
allele num: 2678
num of homozygotes: 104

East Asian
type: Population
allele count: 114
allele frequency: 1.503957783641161e-1
allele num: 758
num of homozygotes: 3

Other
type: Population
allele count: 49
allele frequency: 2.311320754716981e-1
allele num: 212
num of homozygotes: 6

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

QD
type: SiteQuality
SIO_000300: 5.94e0

MQRankSum
type: SiteQuality
SIO_000300: -1.532e0

MQ
type: SiteQuality
SIO_000300: 5.271e1

FS
type: SiteQuality
SIO_000300: 4.124e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.662e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 7.50779e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 671
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 287
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4240
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.975e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.30055e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9708
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 612
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 9.75e1
variant carriers: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 7.075471698113207e-4
allele num: 4240
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.724795640326976e-4
allele num: 3670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.975e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 3.30055e5