19-803542-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803542
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803542
    reference: chr 19
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4099G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.40-19G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.110-19G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.46-19G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.40-19G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.113-19G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.40-19G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.80-19G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.40-19G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4099G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.40-19G>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

19-803542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803542
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803542
    reference: chr 19
allele count: 4
allele frequency: 3.311477581296774e-5
allele num: 120792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.113-19G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4099G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.46-19G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.40-19G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.80-19G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4099G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.40-19G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.40-19G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.40-19G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.110-19G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.40-19G>A
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

19-803544-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803544
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803544
    reference: chr 19
allele count: 3
allele frequency: 2.482539472377611e-5
allele num: 120844
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.40-17T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.46-17T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.113-17T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.40-17T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.110-17T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4101T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.40-17T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.80-17T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4101T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.40-17T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.40-17T>C
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

19-803548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803548
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803548
    reference: chr 19
allele count: 2
allele frequency: 1.654204989082247e-5
allele num: 120904
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.40-13C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.40-13C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.80-13C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.110-13C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.40-13C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.113-13C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.46-13C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4105C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.40-13C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4105C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.40-13C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

19-803549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803549
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803549
    reference: chr 19
allele count: 2
allele frequency: 1.653876686954221e-5
allele num: 120928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4106C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.40-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4106C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.40-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.40-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.46-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.113-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.80-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.110-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.40-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.40-12C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-803552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803552
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803552
    reference: chr 19
allele count: 2
allele frequency: 1.652947204866277e-5
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.80-9C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.40-9C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.40-9C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.46-9C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.110-9C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.113-9C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.40-9C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4109C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.40-9C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4109C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.40-9C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS

19-803554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803554
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803554
    reference: chr 19
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.110-7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.46-7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.113-7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.40-7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.40-7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.80-7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.40-7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.40-7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.40-7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4111C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4111C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.40-7C>T
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-803568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803568
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803568
    reference: chr 19
allele count: 2
allele frequency: 1.650791554550407e-5
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.120C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.87C>T
  hgvsp: ENSP00000468565.2:p.Ser30Phe
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.47C>T
  hgvsp: ENSP00000466250.1:p.Ser16Phe
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.47C>T
  hgvsp: ENSP00000014112.5:p.Ser16Phe
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.47C>T
  hgvsp: ENSP00000408096.1:p.Ser16Phe
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.47C>T
  hgvsp: ENSP00000465652.1:p.Ser16Phe
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.53C>T
  hgvsp: ENSP00000465825.1:p.Ser18Phe
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.117C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.47C>T
  hgvsp: ENSP00000349428.4:p.Ser16Phe
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4125C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4125C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser16Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-803572-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803572
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803572
    reference: chr 19
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.51C>A
  hgvsp: ENSP00000408096.1:p.Asp17Glu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.51C>A
  hgvsp: ENSP00000349428.4:p.Asp17Glu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.51C>A
  hgvsp: ENSP00000466250.1:p.Asp17Glu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.51C>A
  hgvsp: ENSP00000014112.5:p.Asp17Glu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.91C>A
  hgvsp: ENSP00000468565.2:p.Asp31Glu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.51C>A
  hgvsp: ENSP00000465652.1:p.Asp17Glu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4129C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4129C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.124C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.121C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.57C>A
  hgvsp: ENSP00000465825.1:p.Asp19Glu
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp17Glu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

19-803581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803581
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803581
    reference: chr 19
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.133C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.60C>T
  hgvsp: ENST00000349038.4:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4138C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.60C>T
  hgvsp: ENST00000585535.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.60C>T
  hgvsp: ENST00000394601.4:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.130C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.100C>T
  hgvsp: ENST00000586481.1:c.100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.60C>T
  hgvsp: ENST00000356948.6:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.66C>T
  hgvsp: ENST00000587094.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4138C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.60C>T
  hgvsp: ENST00000589575.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe20Phe
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

19-803583-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803583
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803583
    reference: chr 19
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.68C>G
  hgvsp: ENSP00000465825.1:p.Ser23Cys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4140C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.62C>G
  hgvsp: ENSP00000349428.4:p.Ser21Cys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.135C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.9C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.62C>G
  hgvsp: ENSP00000014112.5:p.Ser21Cys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.102C>G
  hgvsp: ENSP00000468565.2:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.62C>G
  hgvsp: ENSP00000466250.1:p.Ser21Cys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.62C>G
  hgvsp: ENSP00000465652.1:p.Ser21Cys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.62C>G
  hgvsp: ENSP00000408096.1:p.Ser21Cys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.132C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4140C>G
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser21Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-803586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803586
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803586
    reference: chr 19
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4143C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.65C>T
  hgvsp: ENSP00000349428.4:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.65C>T
  hgvsp: ENSP00000465652.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4143C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.135C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.65C>T
  hgvsp: ENSP00000014112.5:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.65C>T
  hgvsp: ENSP00000466250.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.105C>T
  hgvsp: ENSP00000468565.2:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.65C>T
  hgvsp: ENSP00000408096.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.138C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.71C>T
  hgvsp: ENSP00000465825.1:p.Thr24Ile
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr22Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

19-803593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803593
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803593
    reference: chr 19
allele count: 4
allele frequency: 3.299622193258872e-5
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4150C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.72C>T
  hgvsp: ENST00000585535.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.72C>T
  hgvsp: ENST00000349038.4:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.142C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.72C>T
  hgvsp: ENST00000356948.6:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.112C>T
  hgvsp: ENST00000586481.1:c.112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.145C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4150C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.78C>T
  hgvsp: ENST00000587094.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.19C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.72C>T
  hgvsp: ENST00000394601.4:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.72C>T
  hgvsp: ENST00000589575.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val24Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

19-803594-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803594
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803594
    reference: chr 19
allele count: 4
allele frequency: 3.299458888742246e-5
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.73A>G
  hgvsp: ENSP00000408096.1:p.Thr25Ala
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.20A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.73A>G
  hgvsp: ENSP00000465652.1:p.Thr25Ala
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.143A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.79A>G
  hgvsp: ENSP00000465825.1:p.Thr27Ala
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4151A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.146A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.73A>G
  hgvsp: ENSP00000466250.1:p.Thr25Ala
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4151A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.113A>G
  hgvsp: ENSP00000468565.2:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.73A>G
  hgvsp: ENSP00000014112.5:p.Thr25Ala
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.73A>G
  hgvsp: ENSP00000349428.4:p.Thr25Ala
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr25Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

19-803599-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803599
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803599
    reference: chr 19
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.78C>G
  hgvsp: ENSP00000465652.1:p.Asn26Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.148C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.78C>G
  hgvsp: ENSP00000014112.5:p.Asn26Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4156C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.25C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.78C>G
  hgvsp: ENSP00000408096.1:p.Asn26Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.78C>G
  hgvsp: ENSP00000349428.4:p.Asn26Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.78C>G
  hgvsp: ENSP00000466250.1:p.Asn26Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.118C>G
  hgvsp: ENSP00000468565.2:p.Asn40Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.84C>G
  hgvsp: ENSP00000465825.1:p.Asn28Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4156C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.151C>G
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn26Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

19-803600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803600
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803600
    reference: chr 19
allele count: 2
allele frequency: 1.649538953862396e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.79G>A
  hgvsp: ENSP00000408096.1:p.Gly27Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.85G>A
  hgvsp: ENSP00000465825.1:p.Gly29Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4157G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.119G>A
  hgvsp: ENSP00000468565.2:p.Gly41Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4157G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.79G>A
  hgvsp: ENSP00000465652.1:p.Gly27Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.26G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.79G>A
  hgvsp: ENSP00000014112.5:p.Gly27Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.79G>A
  hgvsp: ENSP00000466250.1:p.Gly27Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.152G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.149G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.79G>A
  hgvsp: ENSP00000349428.4:p.Gly27Arg
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly27Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

19-803603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803603
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803603
    reference: chr 19
allele count: 4
allele frequency: 3.299077907724791e-5
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4160C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4160C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.152C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.82C>T
  hgvsp: ENSP00000408096.1:p.Pro28Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.122C>T
  hgvsp: ENSP00000468565.2:p.Pro42Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.82C>T
  hgvsp: ENSP00000014112.5:p.Pro28Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.82C>T
  hgvsp: ENSP00000465652.1:p.Pro28Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.29C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.82C>T
  hgvsp: ENSP00000466250.1:p.Pro28Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.82C>T
  hgvsp: ENSP00000349428.4:p.Pro28Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.88C>T
  hgvsp: ENSP00000465825.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.155C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro28Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-803605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803605
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803605
    reference: chr 19
allele count: 2
allele frequency: 1.649566164098842e-5
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.84G>A
  hgvsp: ENST00000356948.6:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.84G>A
  hgvsp: ENST00000349038.4:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.84G>A
  hgvsp: ENST00000394601.4:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.124G>A
  hgvsp: ENST00000586481.1:c.124G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.31G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.90G>A
  hgvsp: ENST00000587094.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.154G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4162G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.157G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.84G>A
  hgvsp: ENST00000589575.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.84G>A
  hgvsp: ENST00000585535.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4162G>A
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro28Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

19-803611-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803611
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803611
    reference: chr 19
allele count: 3
allele frequency: 2.474512521033356e-5
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.90C>G
  hgvsp: ENSP00000349428.4:p.Ile30Met
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.90C>G
  hgvsp: ENSP00000465652.1:p.Ile30Met
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.130C>G
  hgvsp: ENSP00000468565.2:p.Ile44Met
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.90C>G
  hgvsp: ENSP00000408096.1:p.Ile30Met
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.96C>G
  hgvsp: ENSP00000465825.1:p.Ile32Met
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4168C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4168C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.90C>G
  hgvsp: ENSP00000466250.1:p.Ile30Met
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.163C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.90C>G
  hgvsp: ENSP00000014112.5:p.Ile30Met
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.160C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.37C>G
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile30Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-803614-G-GAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803614
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803617
    reference: chr 19
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: GAGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.138_140dupGCA
  hgvsp: ENSP00000468565.2:p.Ser47dup
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.98_100dupGCA
  hgvsp: ENSP00000466250.1:p.Ser33dup
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.98_100dupGCA
  hgvsp: ENSP00000014112.5:p.Ser33dup
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.98_100dupGCA
  hgvsp: ENSP00000465652.1:p.Ser33dup
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4176_51+4178dupGCA
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.98_100dupGCA
  hgvsp: ENSP00000408096.1:p.Ser33dup
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.171_173dupGCA
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.45_47dupGCA
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.104_106dupGCA
  hgvsp: ENSP00000465825.1:p.Ser35dup
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.98_100dupGCA
  hgvsp: ENSP00000349428.4:p.Ser33dup
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4176_39+4178dupGCA
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.168_170dupGCA
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser33dup
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS

19-803617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803617
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803617
    reference: chr 19
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.136C>T
  hgvsp: ENST00000586481.1:c.136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.96C>T
  hgvsp: ENST00000585535.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4174C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.96C>T
  hgvsp: ENST00000394601.4:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.166C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.96C>T
  hgvsp: ENST00000349038.4:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.102C>T
  hgvsp: ENST00000587094.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.96C>T
  hgvsp: ENST00000356948.6:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.169C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.96C>T
  hgvsp: ENST00000589575.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.43C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4174C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser32Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

19-803623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803623
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803623
    reference: chr 19
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.172C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.102C>T
  hgvsp: ENST00000349038.4:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.102C>T
  hgvsp: ENST00000589575.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.108C>T
  hgvsp: ENST00000587094.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.142C>T
  hgvsp: ENST00000586481.1:c.142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4180C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.102C>T
  hgvsp: ENST00000356948.6:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4180C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.102C>T
  hgvsp: ENST00000394601.4:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.49C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.175C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.102C>T
  hgvsp: ENST00000585535.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn34Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-803625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803625
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803625
    reference: chr 19
allele count: 15
allele frequency: 1.237480819047305e-4
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.104C>T
  hgvsp: ENSP00000014112.5:p.Ser35Leu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4182C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.104C>T
  hgvsp: ENSP00000349428.4:p.Ser35Leu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.51C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.110C>T
  hgvsp: ENSP00000465825.1:p.Ser37Leu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.174C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.104C>T
  hgvsp: ENSP00000465652.1:p.Ser35Leu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4182C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.104C>T
  hgvsp: ENSP00000466250.1:p.Ser35Leu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.144C>T
  hgvsp: ENSP00000468565.2:p.Ser49Leu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.104C>T
  hgvsp: ENSP00000408096.1:p.Ser35Leu
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.177C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser35Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

19-803626-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803626
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803626
    reference: chr 19
allele count: 9
allele frequency: 7.425129939773946e-5
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.105G>A
  hgvsp: ENST00000585535.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.178G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.52G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.105G>A
  hgvsp: ENST00000394601.4:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.145G>A
  hgvsp: ENST00000586481.1:c.145G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.105G>A
  hgvsp: ENST00000589575.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4183G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.105G>A
  hgvsp: ENST00000356948.6:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4183G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.105G>A
  hgvsp: ENST00000349038.4:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.175G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.111G>A
  hgvsp: ENST00000587094.1:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser35Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

19-803628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803628
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803628
    reference: chr 19
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.177C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.180C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4185C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.107C>T
  hgvsp: ENSP00000408096.1:p.Ala36Val
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.147C>T
  hgvsp: ENSP00000468565.2:p.Ala50Val
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.113C>T
  hgvsp: ENSP00000465825.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.107C>T
  hgvsp: ENSP00000014112.5:p.Ala36Val
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.107C>T
  hgvsp: ENSP00000349428.4:p.Ala36Val
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4185C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.54C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.107C>T
  hgvsp: ENSP00000465652.1:p.Ala36Val
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.107C>T
  hgvsp: ENSP00000466250.1:p.Ala36Val
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala36Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

19-803629-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803629
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803629
    reference: chr 19
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.108T>C
  hgvsp: ENST00000585535.1:c.108T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.114T>C
  hgvsp: ENST00000587094.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.178T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.148T>C
  hgvsp: ENST00000586481.1:c.148T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.108T>C
  hgvsp: ENST00000356948.6:c.108T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.55T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.181T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.108T>C
  hgvsp: ENST00000349038.4:c.108T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4186T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.108T>C
  hgvsp: ENST00000589575.1:c.108T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4186T>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.108T>C
  hgvsp: ENST00000394601.4:c.108T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala36Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS

19-803629-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803629
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803629
    reference: chr 19
allele count: 10
allele frequency: 8.250688932525866e-5
allele num: 121202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4186T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.108T>G
  hgvsp: ENST00000356948.6:c.108T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.178T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.108T>G
  hgvsp: ENST00000349038.4:c.108T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.108T>G
  hgvsp: ENST00000589575.1:c.108T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.148T>G
  hgvsp: ENST00000586481.1:c.148T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.55T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.108T>G
  hgvsp: ENST00000585535.1:c.108T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4186T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.114T>G
  hgvsp: ENST00000587094.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.108T>G
  hgvsp: ENST00000394601.4:c.108T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.181T>G
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala36Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

19-803634-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803634
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803634
    reference: chr 19
allele count: 4
allele frequency: 3.300765777660417e-5
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.113C>T
  hgvsp: ENSP00000408096.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.113C>T
  hgvsp: ENSP00000465652.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.113C>T
  hgvsp: ENSP00000014112.5:p.Ala38Val
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4191C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.113C>T
  hgvsp: ENSP00000349428.4:p.Ala38Val
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4191C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.183C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.186C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.153C>T
  hgvsp: ENSP00000468565.2:p.Ala52Val
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.119C>T
  hgvsp: ENSP00000465825.1:p.Ala40Val
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.60C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.113C>T
  hgvsp: ENSP00000466250.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala38Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-803640-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803640
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803640
    reference: chr 19
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+4A>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4197A>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4197A>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+4A>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+4A>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+4A>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+4A>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+4A>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+4A>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+4A>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+4A>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+4A>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.115+4A>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

19-803642-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803642
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803642
    reference: chr 19
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+6G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+6G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+6G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+6G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4199G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+6G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4199G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+6G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+6G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+6G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+6G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+6G>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.115+6G>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

19-803643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803643
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803643
    reference: chr 19
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4200C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+7C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4200C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.115+7C>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

19-803644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803644
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803644
    reference: chr 19
allele count: 6
allele frequency: 4.954255705651154e-5
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+8C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+8C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+8C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+8C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+8C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+8C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+8C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4201C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+8C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4201C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+8C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+8C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.115+8C>T
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-803647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803647
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803647
    reference: chr 19
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+11G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+11G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+11G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+11G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+11G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+11G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4204G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+11G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+11G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+11G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4204G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+11G>A
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-803648-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803648
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803648
    reference: chr 19
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+12A>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+12A>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+12A>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4205A>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+12A>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+12A>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4205A>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+12A>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+12A>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+12A>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+12A>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+12A>C
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-803650-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803650
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803650
    reference: chr 19
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+14T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+14T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+14T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+14T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+14T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4207T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+14T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+14T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4207T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+14T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+14T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+14T>G
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-803651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803651
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803651
    reference: chr 19
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4208C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+15C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+15C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+15C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+15C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+15C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+15C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+15C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+15C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4208C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+15C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+15C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

19-803652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803652
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803652
    reference: chr 19
allele count: 17
allele frequency: 1.404378356051219e-4
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+16G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+16G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+16G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+16G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+16G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4209G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.39+4209G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+16G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+16G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+16G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+16G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+16G>A
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-803666-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803666
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803666
    reference: chr 19
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+30C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+30C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+30C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+30C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+30C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+30C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4223C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-4203C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+30C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+30C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+30C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+30C>A
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

19-803666-CCCGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803666
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803661
    reference: chr 19
allele count: 3
allele frequency: 2.479953707530793e-5
allele num: 120970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+31_115+35delCCGTG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+31_62+35delCCGTG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+31_155+35delCCGTG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+31_121+35delCCGTG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+31_115+35delCCGTG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+31_185+35delCCGTG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+31_188+35delCCGTG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4224_51+4228delCCGTG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-4202_40-4198delCCGTG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+31_115+35delCCGTG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+31_115+35delCCGTG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+31_115+35delCCGTG
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: CCCGTG
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

19-803668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803668
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803668
    reference: chr 19
allele count: 14
allele frequency: 1.157675387821255e-4
allele num: 120932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+32C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+32C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+32C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+32C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-4201C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+32C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+32C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4225C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+32C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+32C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+32C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+32C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

19-803669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803669
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803669
    reference: chr 19
allele count: 3
allele frequency: 2.480938125403152e-5
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+33G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+33G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+33G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+33G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4226G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-4200G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+33G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+33G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+33G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+33G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+33G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+33G>A
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

19-803673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803673
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803673
    reference: chr 19
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4230G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-4196G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+37G>A
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-803683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803683
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803683
    reference: chr 19
allele count: 5
allele frequency: 4.140443855581318e-5
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+47C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+47C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-4186C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+47C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+47C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+47C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+47C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+47C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+47C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4240C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+47C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+47C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-803684-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803684
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803683
    reference: chr 19
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+50delG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+50delG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+50delG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+50delG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+50delG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4243delG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-4183delG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+50delG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+50delG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+50delG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+50delG
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+50delG
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TG
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-803685-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803685
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803685
    reference: chr 19
allele count: 367
allele frequency: 3.038783824065181e-3
allele num: 120772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+49G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+49G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+49G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4242G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+49G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+49G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+49G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-4184G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+49G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+49G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+49G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+49G>C
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 4.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 6.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
num of homozygotes: 3
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-803686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803686
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803686
    reference: chr 19
allele count: 549
allele frequency: 4.546960410800066e-3
allele num: 120740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.185+50G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.115+50G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.155+50G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.62+50G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.121+50G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.115+50G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.115+50G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.188+50G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.115+50G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-4183G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.51+4243G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.115+50G>A
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 4.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 6.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 4.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 5.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 5.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 6.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
num of homozygotes: 3
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

19-803985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803985
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803985
    reference: chr 19
allele count: 1
allele frequency: 8.3558942478024e-6
allele num: 119676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-51C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4375C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-51C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-51C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-51C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3884C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-51C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-51C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-51C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-51C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-51C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-51C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-803991-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803991
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803991
    reference: chr 19
allele count: 1
allele frequency: 8.352265134304423e-6
allele num: 119728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-45G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-45G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-45G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-45G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-45G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4369G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-45G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-45G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3878G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-45G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-45G>C
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-45G>C
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11134
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

19-803998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803998
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803998
    reference: chr 19
allele count: 39
allele frequency: 3.255806187701401e-4
allele num: 119786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-38C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-38C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-38C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3871C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-38C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-38C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4362C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-38C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-38C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-38C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-38C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-38C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20872
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14047
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
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: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

19-803999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 803999
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 803999
    reference: chr 19
allele count: 4
allele frequency: 3.337672307332866e-5
allele num: 119844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4361G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3870G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-37G>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-37G>A
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21053
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

19-804007-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804007
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804007
    reference: chr 19
allele count: 3
allele frequency: 2.4997500249975e-5
allele num: 120012
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-29G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-29G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3862G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-29G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-29G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-29G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4353G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-29G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-29G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-29G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-29G>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-29G>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-804008-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804008
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804008
    reference: chr 19
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-28C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-28C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-28C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-28C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3861C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-28C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-28C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-28C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-28C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-28C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-28C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4352C>A
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

19-804013-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804013
    reference: chr 19
allele count: 9072
allele frequency: 7.541021761899221e-2
allele num: 120302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-23A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-23A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-23A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-23A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4347A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-23A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3856A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-23A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-23A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-23A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-23A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-23A>G
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.75e1
  variant carriers: 931
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 4.25e1
  variant carriers: 947
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 3.25e1
  variant carriers: 631
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 342
genotype depth: GenotypeDepth
  all individuals: 13854
  bin: 2.25e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.25e1
  variant carriers: 624
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 20415
  bin: 2.75e1
  variant carriers: 468
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 713
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 3.75e1
  variant carriers: 883
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 481
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 99
genotype quality: GenotypeQuality
num of homozygotes: 736
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-804015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804015
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804015
    reference: chr 19
allele count: 2
allele frequency: 1.661543573980228e-5
allele num: 120370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-21C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-21C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4345C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-21C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-21C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-21C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3854C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-21C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-21C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-21C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-21C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-21C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-804018-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804018
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804018
    reference: chr 19
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-18A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-18A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-18A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-18A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-18A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-18A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-18A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-18A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-18A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4342A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3851A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-18A>G
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20581
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-804023-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804023
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804022
    reference: chr 19
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3841delC
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4332delC
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-8delC
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-8delC
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-8delC
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-8delC
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-8delC
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-8delC
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-8delC
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-8delC
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-8delC
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-8delC
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: AC
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

19-804024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804024
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804024
    reference: chr 19
allele count: 4
allele frequency: 3.318015163329296e-5
allele num: 120554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4336C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3845C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-12C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-12C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/19-804026-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804026
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804026
    reference: chr 19
allele count: 6
allele frequency: 4.975289395999867e-5
allele num: 120596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-10C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3843C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-10C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-10C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-10C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-10C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-10C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4334C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-10C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-10C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-10C>A
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-10C>A
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

19-804033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804033
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804033
    reference: chr 19
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4327C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63-3C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116-3C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189-3C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156-3C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116-3C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186-3C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116-3C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122-3C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116-3C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116-3C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3836C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.116-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

19-804036-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804036
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804036
    reference: chr 19
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.122C>G
  hgvsp: ENSP00000465825.1:p.Ala41Gly
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3833C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.116C>G
  hgvsp: ENSP00000014112.5:p.Ala39Gly
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.116C>G
  hgvsp: ENSP00000408096.1:p.Ala39Gly
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.116C>G
  hgvsp: ENSP00000349428.4:p.Ala39Gly
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.186C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.156C>G
  hgvsp: ENSP00000468565.2:p.Ala53Gly
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.116C>G
  hgvsp: ENSP00000466250.1:p.Ala39Gly
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4324C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.189C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.63C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.116C>G
  hgvsp: ENSP00000465652.1:p.Ala39Gly
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala39Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-804040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804040
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804040
    reference: chr 19
allele count: 101
allele frequency: 8.357329626319796e-4
allele num: 120852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.160C>T
  hgvsp: ENST00000586481.1:c.160C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.67C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3829C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.120C>T
  hgvsp: ENST00000356948.6:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.120C>T
  hgvsp: ENST00000349038.4:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.120C>T
  hgvsp: ENST00000585535.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.126C>T
  hgvsp: ENST00000587094.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.120C>T
  hgvsp: ENST00000394601.4:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4320C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.190C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.193C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.120C>T
  hgvsp: ENST00000589575.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10741
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20901
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.Asn40Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

19-804040-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804040
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804040
    reference: chr 19
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.126C>G
  hgvsp: ENSP00000465825.1:p.Asn42Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.120C>G
  hgvsp: ENSP00000466250.1:p.Asn40Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.67C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.120C>G
  hgvsp: ENSP00000408096.1:p.Asn40Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4320C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3829C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.120C>G
  hgvsp: ENSP00000465652.1:p.Asn40Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.190C>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.160C>G
  hgvsp: ENSP00000468565.2:p.Asn54Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.120C>G
  hgvsp: ENSP00000014112.5:p.Asn40Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.120C>G
  hgvsp: ENSP00000349428.4:p.Asn40Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.193C>G
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn40Lys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

19-804045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804045
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804045
    reference: chr 19
allele count: 2
allele frequency: 1.654013463669594e-5
allele num: 120918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.125A>G
  hgvsp: ENSP00000466250.1:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.195A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.72A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.125A>G
  hgvsp: ENSP00000408096.1:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3824A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.125A>G
  hgvsp: ENSP00000349428.4:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.165A>G
  hgvsp: ENSP00000468565.2:p.Asn56Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4315A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.125A>G
  hgvsp: ENSP00000465652.1:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.125A>G
  hgvsp: ENSP00000014112.5:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.131A>G
  hgvsp: ENSP00000465825.1:p.Asn44Ser
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.198A>G
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn42Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

19-804046-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804046
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804046
    reference: chr 19
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.73T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.126T>G
  hgvsp: ENSP00000408096.1:p.Asn42Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3823T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.126T>G
  hgvsp: ENSP00000014112.5:p.Asn42Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.126T>G
  hgvsp: ENSP00000349428.4:p.Asn42Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4314T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.132T>G
  hgvsp: ENSP00000465825.1:p.Asn44Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.126T>G
  hgvsp: ENSP00000465652.1:p.Asn42Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.166T>G
  hgvsp: ENSP00000468565.2:p.Asn56Lys
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.199T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.196T>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.126T>G
  hgvsp: ENSP00000466250.1:p.Asn42Lys
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn42Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

19-804057-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804057
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804057
    reference: chr 19
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.84A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.137A>G
  hgvsp: ENSP00000466250.1:p.Lys46Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.143A>G
  hgvsp: ENSP00000465825.1:p.Lys48Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.137A>G
  hgvsp: ENSP00000014112.5:p.Lys46Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.210A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.137A>G
  hgvsp: ENSP00000408096.1:p.Lys46Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.207A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.177A>G
  hgvsp: ENSP00000468565.2:p.Lys60Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.137A>G
  hgvsp: ENSP00000465652.1:p.Lys46Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3812A>G
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.137A>G
  hgvsp: ENSP00000349428.4:p.Lys46Arg
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4303A>G
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys46Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

19-804061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804061
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804061
    reference: chr 19
allele count: 7
allele frequency: 5.784454691192755e-5
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.141C>T
  hgvsp: ENST00000356948.6:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3808C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.214C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.147C>T
  hgvsp: ENST00000587094.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.141C>T
  hgvsp: ENST00000349038.4:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.181C>T
  hgvsp: ENST00000586481.1:c.181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.141C>T
  hgvsp: ENST00000394601.4:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.211C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.141C>T
  hgvsp: ENST00000589575.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.88C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.141C>T
  hgvsp: ENST00000585535.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4299C>T
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21057
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe47Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-804070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 804070
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 804070
    reference: chr 19
allele count: 2
allele frequency: 1.652428243303535e-5
allele num: 121034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000408096
  ensembl transcript: ENST00000394601
  gene symbol: PTBP1
  hgvsc: ENST00000394601.4:c.150C>T
  hgvsp: ENST00000394601.4:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000586944
  gene symbol: PTBP1
  hgvsc: ENST00000586944.1:n.220C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465825
  ensembl transcript: ENST00000587094
  gene symbol: PTBP1
  hgvsc: ENST00000587094.1:c.156C>T
  hgvsp: ENST00000587094.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000587191
  gene symbol: PTBP1
  hgvsc: ENST00000587191.2:n.52-4290C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000468565
  ensembl transcript: ENST00000586481
  gene symbol: PTBP1
  hgvsc: ENST00000586481.1:c.190C>T
  hgvsp: ENST00000586481.1:c.190C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000342332
  ensembl transcript: ENST00000350092
  gene symbol: PTBP1
  hgvsc: ENST00000350092.4:c.40-3799C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000592113
  gene symbol: PTBP1
  hgvsc: ENST00000592113.1:n.97C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000014112
  ensembl transcript: ENST00000349038
  gene symbol: PTBP1
  hgvsc: ENST00000349038.4:c.150C>T
  hgvsp: ENST00000349038.4:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000465652
  ensembl transcript: ENST00000589575
  gene symbol: PTBP1
  hgvsc: ENST00000589575.1:c.150C>T
  hgvsp: ENST00000589575.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011304
  ensembl transcript: ENST00000590887
  gene symbol: PTBP1
  hgvsc: ENST00000590887.1:n.223C>T
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000466250
  ensembl transcript: ENST00000585535
  gene symbol: PTBP1
  hgvsc: ENST00000585535.1:c.150C>T
  hgvsp: ENST00000585535.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011304
  ensembl protein: ENSP00000349428
  ensembl transcript: ENST00000356948
  gene symbol: PTBP1
  hgvsc: ENST00000356948.6:c.150C>T
  hgvsp: ENST00000356948.6:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9583
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp50Asp
num of homozygotes: 0
population: Other
reference allele: C

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7357
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.933202e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 4.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

GenotypeQuality
all individuals: 38709
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7357
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.625346901017577e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 4.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.933202e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.314e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

GenotypeQuality
all individuals: 2611
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7476
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38712
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.840942562592047e-4
allele num: 16296
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.056e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.87e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-1

FS
type: SiteQuality
SIO_000300: 6.039e0

QD
type: SiteQuality
SIO_000300: 1.294e1

DP
type: SiteQuality
SIO_000300: 2.934252e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7584
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38710
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1475
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3101
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.248e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

DP
type: SiteQuality
SIO_000300: 2.936162e6

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 2583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 249
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7611
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38710
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.455e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e-1

DP
type: SiteQuality
SIO_000300: 2.936633e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

GenotypeQuality
all individuals: 1475
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38710
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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South Asian
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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 frequency: 3.009147809340395e-5
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num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

Latino
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allele num: 11572
num of homozygotes: 0

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

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

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

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

East Asian
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allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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DP
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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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

East Asian
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European (Non-Finnish)
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South Asian
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African
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num of homozygotes: 0

European (Finnish)
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ClippingRankSum
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QD
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FS
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66582
num of homozygotes: 0

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

African
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East Asian
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European (Non-Finnish)
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allele num: 66584
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Latino
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South Asian
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Other
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DP
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MQRankSum
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MQ
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66586
num of homozygotes: 0

South Asian
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African
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European (Finnish)
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Other
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East Asian
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Latino
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ReadPosRankSum
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QD
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VQSLOD
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
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African
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European (Non-Finnish)
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Latino
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Other
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South Asian
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European (Finnish)
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
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allele frequency: 6.05913717886573e-5
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Latino
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Other
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European (Non-Finnish)
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allele num: 66600
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East Asian
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European (Finnish)
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

Latino
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South Asian
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East Asian
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African
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Other
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European (Finnish)
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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MQRankSum
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ReadPosRankSum
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QD
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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MQ
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FS
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QD
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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BaseQRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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East Asian
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Latino
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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DP
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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Other
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European (Finnish)
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East Asian
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Latino
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MQ
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FS
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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Latino
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South Asian
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Other
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European (Non-Finnish)
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QD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11572
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele num: 8650
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ReadPosRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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SIO_000300: 2.15e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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European (Non-Finnish)
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allele frequency: 3.003995313767311e-5
allele num: 66578
num of homozygotes: 0

East Asian
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European (Finnish)
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num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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Latino
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allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

African
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allele frequency: 0.0e0
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DP
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SIO_000300: 2.939778e6

MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -4.343e0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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South Asian
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African
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allele num: 10394
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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SIO_000300: 2.938244e6

InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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SIO_000300: -1.718e0

MQ
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SIO_000300: 5.985e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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East Asian
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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: 1
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allele num: 66560
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Other
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10392
num of homozygotes: 0

South Asian
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European (Finnish)
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Latino
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Other
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East Asian
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 66544
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Latino
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European (Finnish)
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MQRankSum
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FS
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VQSLOD
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DP
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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African
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East Asian
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Latino
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European (Finnish)
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Other
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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FS
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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allele num: 10390
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Other
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Latino
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FS
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MQ
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QD
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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Other
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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VQSLOD
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GenotypeDepth
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variant carriers: 1

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

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

European (Finnish)
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Other
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African
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East Asian
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South Asian
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DP
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SIO_000300: 2.933945e6

QD
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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European (Finnish)
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66490
num of homozygotes: 0

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

African
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allele frequency: 8.667180277349769e-4
allele num: 10384
num of homozygotes: 0

European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.119951040391677e-5
allele num: 16340
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.008966720828068e-5
allele num: 66468
num of homozygotes: 0

DP
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -2.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeDepth
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
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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: 1.504121292341014e-5
allele num: 66484
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

FS
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SIO_000300: 0.0e0

MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 7.05e-1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

QD
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SIO_000300: 1.301e1

DP
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SIO_000300: 2.917957e6

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505797319680771e-5
allele num: 66410
num of homozygotes: 0

East Asian
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allele frequency: 4.62962962962963e-4
allele num: 8640
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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FS
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SIO_000300: 1.657e0

MQRankSum
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MQ
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DP
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VQSLOD
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InbreedingCoeff
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SIO_000300: -3.0e-4

ReadPosRankSum
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SIO_000300: -9.83e-1

ClippingRankSum
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SIO_000300: 7.47e-1

BaseQRankSum
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SIO_000300: -4.339e0

QD
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SIO_000300: 1.491e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2294
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.15839389087326e-5
allele num: 16238
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQRankSum
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SIO_000300: 1.05e-1

MQ
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SIO_000300: 6.02e1

InbreedingCoeff
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SIO_000300: -3.0e-4

VQSLOD
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SIO_000300: 3.76e0

BaseQRankSum
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SIO_000300: 8.21e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.94e-1

DP
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SIO_000300: 2.909143e6

QD
type: SiteQuality
SIO_000300: 1.254e1

GenotypeDepth
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 363

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

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

African
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allele count: 355
allele frequency: 3.419379695627047e-2
allele num: 10382
num of homozygotes: 3

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.011413256241154e-5
allele num: 66414
num of homozygotes: 0

Latino
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allele count: 8
allele frequency: 6.91323885240235e-4
allele num: 11572
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 2.63e-1

VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 9

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

European (Non-Finnish)
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allele count: 440
allele frequency: 6.626306436553116e-3
allele num: 66402
num of homozygotes: 3

Latino
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allele frequency: 3.717150760719225e-3
allele num: 11568
num of homozygotes: 0

African
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allele count: 16
allele frequency: 1.541128876902331e-3
allele num: 10382
num of homozygotes: 0

Other
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allele frequency: 3.333333333333334e-3
allele num: 900
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European (Finnish)
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allele frequency: 3.932244404113733e-3
allele num: 6612
num of homozygotes: 0

South Asian
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allele frequency: 1.293262717083385e-3
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num of homozygotes: 0

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

Other
type: Population
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European (Finnish)
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allele count: 1
allele frequency: 1.521606816798539e-4
allele num: 6572
num of homozygotes: 0

Latino
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65694
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521467912241731e-5
allele num: 65726
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

DP
type: SiteQuality
SIO_000300: 1.708406e6

QD
type: SiteQuality
SIO_000300: 1.298e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.438e0

FS
type: SiteQuality
SIO_000300: 3.137e0

VQSLOD
type: SiteQuality
SIO_000300: 9.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
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variant carriers: 0

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

GenotypeQuality
all individuals: 3872
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variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 38

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2795
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GenotypeQuality
all individuals: 4016
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 37
allele frequency: 3.615399648231386e-3
allele num: 10234
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.755e0

FS
type: SiteQuality
SIO_000300: 1.346e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.725624e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.227e1

GenotypeDepth
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 66
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9194
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GenotypeQuality
all individuals: 5975
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variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.562182548131026e-5
allele num: 65758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 2.054e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.730341e6

QD
type: SiteQuality
SIO_000300: 1.242e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 4082
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2839
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 1483
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GenotypeQuality
all individuals: 9331
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GenotypeQuality
all individuals: 536
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GenotypeQuality
all individuals: 28578
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variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036560184622859e-5
allele num: 65864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.117704637220115e-5
allele num: 16346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.557e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.742325e6

VQSLOD
type: SiteQuality
SIO_000300: 3.85e-1

FS
type: SiteQuality
SIO_000300: 2.051e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeDepth
all individuals: 1296
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 1485
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GenotypeQuality
all individuals: 514
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GenotypeQuality
all individuals: 130
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GenotypeQuality
all individuals: 28615
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 734
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 5995
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GenotypeQuality
all individuals: 336
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GenotypeQuality
all individuals: 1780
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GenotypeQuality
all individuals: 377
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variant carriers: 0

GenotypeQuality
all individuals: 4084
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3941
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

QD
type: SiteQuality
SIO_000300: 3.019e1

VQSLOD
type: SiteQuality
SIO_000300: -2.808e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.744293e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

GenotypeDepth
all individuals: 1251
bin: 5.25e1
variant carriers: 874

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 309
bin: 3.25e1
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GenotypeQuality
all individuals: 220
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GenotypeQuality
all individuals: 538
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variant carriers: 3

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 108
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GenotypeQuality
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GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 8570
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GenotypeQuality
all individuals: 210
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GenotypeQuality
all individuals: 98
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variant carriers: 9

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 41
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variant carriers: 2

GenotypeQuality
all individuals: 11674
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variant carriers: 8127

GenotypeQuality
all individuals: 2202
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variant carriers: 28

GenotypeQuality
all individuals: 1289
bin: 9.25e1
variant carriers: 34

GenotypeQuality
all individuals: 3425
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variant carriers: 24

GenotypeQuality
all individuals: 3556
bin: 7.25e1
variant carriers: 16

GenotypeQuality
all individuals: 27082
bin: 6.25e1
variant carriers: 19

Other
type: Population
allele count: 71
allele frequency: 7.888888888888888e-2
allele num: 900
num of homozygotes: 6

East Asian
type: Population
allele count: 33
allele frequency: 3.846153846153846e-3
allele num: 8580
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 3994
allele frequency: 6.052615627083712e-2
allele num: 65988
num of homozygotes: 109

European (Finnish)
type: Population
allele count: 365
allele frequency: 5.540376442015786e-2
allele num: 6588
num of homozygotes: 14

Latino
type: Population
allele count: 417
allele frequency: 3.62419607161481e-2
allele num: 11506
num of homozygotes: 17

South Asian
type: Population
allele count: 878
allele frequency: 5.348440545808967e-2
allele num: 16416
num of homozygotes: 40

African
type: Population
allele count: 3314
allele frequency: 3.209996125532739e-1
allele num: 10324
num of homozygotes: 549

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 1.909912e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.12e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

QD
type: SiteQuality
SIO_000300: 1.333e1

VQSLOD
type: SiteQuality
SIO_000300: 6.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

GenotypeDepth
all individuals: 183
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variant carriers: 0

GenotypeQuality
all individuals: 147
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GenotypeQuality
all individuals: 239
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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: 19
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GenotypeQuality
all individuals: 1570
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 2500
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GenotypeQuality
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GenotypeQuality
all individuals: 540
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GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 8829
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GenotypeQuality
all individuals: 27424
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GenotypeQuality
all individuals: 114
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GenotypeQuality
all individuals: 1303
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GenotypeQuality
all individuals: 9762
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variant carriers: 2

GenotypeQuality
all individuals: 3681
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514830187535977e-5
allele num: 66014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.9049e6

FS
type: SiteQuality
SIO_000300: 5.411e0

MQRankSum
type: SiteQuality
SIO_000300: -8.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
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SIO_000300: -3.787e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

QD
type: SiteQuality
SIO_000300: 1.226e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeDepth
all individuals: 382
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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
all individuals: 2508
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 3712
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GenotypeQuality
all individuals: 3688
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GenotypeQuality
all individuals: 121
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 1310
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GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 287
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66050
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 3.5e-2

ReadPosRankSum
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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DP
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SIO_000300: 1.906999e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.47e-1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.512813530604218e-5
allele num: 66102
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -3.49e-1

ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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QD
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DP
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VQSLOD
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SIO_000300: 1.04e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11524
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

East Asian
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allele frequency: 4.655493482309125e-4
allele num: 8592
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
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SIO_000300: -5.0e-2

VQSLOD
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ClippingRankSum
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SIO_000300: -4.0e-1

BaseQRankSum
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SIO_000300: -2.177e0

ReadPosRankSum
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SIO_000300: 2.98e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

DP
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SIO_000300: 1.911198e6

FS
type: SiteQuality
SIO_000300: 5.03e-1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 433
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.070569027030296e-5
allele num: 66148
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

QD
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MQRankSum
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SIO_000300: 2.34e-1

ReadPosRankSum
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SIO_000300: 3.0e-3

BaseQRankSum
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SIO_000300: -1.7e0

InbreedingCoeff
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SIO_000300: 1.3e-3

VQSLOD
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SIO_000300: 1.41e0

DP
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SIO_000300: 1.912328e6

FS
type: SiteQuality
SIO_000300: 1.851e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
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SIO_000300: 8.834e0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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East Asian
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South Asian
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allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
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European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 100

European (Non-Finnish)
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allele count: 81
allele frequency: 1.221351025331725e-3
allele num: 66320
num of homozygotes: 0

African
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allele frequency: 3.861749372465727e-4
allele num: 10358
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Latino
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East Asian
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European (Finnish)
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Other
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South Asian
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
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num of homozygotes: 0

African
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507840772014475e-5
allele num: 66320
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 1.920582e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

FS
type: SiteQuality
SIO_000300: 1.815e0

QD
type: SiteQuality
SIO_000300: 1.13e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

GenotypeDepth
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 10769
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8989
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28467
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9760
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66358
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.148e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 1.217e0

QD
type: SiteQuality
SIO_000300: 1.107e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 1.918963e6

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
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variant carriers: 0

GenotypeDepth
all individuals: 1765
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9759
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8988
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.282e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.919168e6

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

FS
type: SiteQuality
SIO_000300: 8.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeDepth
all individuals: 709
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1765
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3721
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9759
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9017
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.920618e6

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.513e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2708
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 131
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9763
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28522
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 3760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.032335762028061e-5
allele num: 66428
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.99e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.767e0

FS
type: SiteQuality
SIO_000300: 5.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.173e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

DP
type: SiteQuality
SIO_000300: 1.921199e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeDepth
all individuals: 924
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1204
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variant carriers: 0

GenotypeDepth
all individuals: 279
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
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GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 9761
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variant carriers: 2

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9037
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GenotypeQuality
all individuals: 2521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28465
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

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