1-202113714-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202113714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202113714
    reference: chr 1
allele count: 2
allele frequency: 1.731331913641164e-5
allele num: 115518
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143862
  ensembl protein: ENSP00000272217
  ensembl transcript: ENST00000272217
  gene symbol: ARL8A
  hgvsc: ENST00000272217.2:c.-14C>G
  variant of: http://identifiers.org/hgnc/25192
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11254
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 2.424242424242424e-4
  allele num: 8250
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 850
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-202113716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202113716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202113716
    reference: chr 1
allele count: 2
allele frequency: 1.73178165696869e-5
allele num: 115488
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143862
  ensembl protein: ENSP00000272217
  ensembl transcript: ENST00000272217
  gene symbol: ARL8A
  hgvsc: ENST00000272217.2:c.-16G>A
  variant of: http://identifiers.org/hgnc/25192
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 848
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6444
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9508
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-202113720-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202113720
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202113720
    reference: chr 1
allele count: 1
allele frequency: 8.692628650904034e-6
allele num: 115040
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143862
  ensembl protein: ENSP00000272217
  ensembl transcript: ENST00000272217
  gene symbol: ARL8A
  hgvsc: ENST00000272217.2:c.-20C>G
  variant of: http://identifiers.org/hgnc/25192
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
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  allele num: 844
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11238
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8212
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-202113723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202113723
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202113723
    reference: chr 1
allele count: 1
allele frequency: 8.726612678022898e-6
allele num: 114592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143862
  ensembl protein: ENSP00000272217
  ensembl transcript: ENST00000272217
  gene symbol: ARL8A
  hgvsc: ENST00000272217.2:c.-23G>A
  variant of: http://identifiers.org/hgnc/25192
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
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  allele num: 848
  num of homozygotes: 0
population: Latino
  type: Population
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  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.066098081023454e-4
  allele num: 9380
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-202113728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202113728
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202113728
    reference: chr 1
allele count: 1
allele frequency: 8.823321804192843e-6
allele num: 113336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143862
  ensembl protein: ENSP00000272217
  ensembl transcript: ENST00000272217
  gene symbol: ARL8A
  hgvsc: ENST00000272217.2:c.-28G>A
  variant of: http://identifiers.org/hgnc/25192
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 544
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.625276296970485e-5
  allele num: 61528
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9194
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8140
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-202113732-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202113732
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202113732
    reference: chr 1
allele count: 1
allele frequency: 8.933037947545201e-6
allele num: 111944
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143862
  ensembl protein: ENSP00000272217
  ensembl transcript: ENST00000272217
  gene symbol: ARL8A
  hgvsc: ENST00000272217.2:c.-32C>G
  variant of: http://identifiers.org/hgnc/25192
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 2173
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8387
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genotype depth: GenotypeDepth
  all individuals: 125
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genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
  all individuals: 1531
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genotype depth: GenotypeDepth
  all individuals: 11
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 34
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 620
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 210
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 281
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 542
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genotype quality: GenotypeQuality
  all individuals: 153
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9050
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population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 60566
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8080
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-202113735-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202113735
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202113735
    reference: chr 1
allele count: 1
allele frequency: 8.991512012660049e-6
allele num: 111216
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143862
  ensembl protein: ENSP00000272217
  ensembl transcript: ENST00000272217
  gene symbol: ARL8A
  hgvsc: ENST00000272217.2:c.-35G>T
  variant of: http://identifiers.org/hgnc/25192
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 126
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 134
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 271
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1167
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8044
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population: South Asian
  type: Population
  allele count: 0
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  allele num: 16030
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 818
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-202117690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117690
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117690
    reference: chr 1
allele count: 2
allele frequency: 1.74681642706168e-5
allele num: 114494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*712C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*432+19C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.*44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.*44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.*44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*651C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.*25+19C>T
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14407
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
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genotype depth: GenotypeDepth
  all individuals: 7765
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 167
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genotype quality: GenotypeQuality
  all individuals: 1196
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genotype quality: GenotypeQuality
  all individuals: 390
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genotype quality: GenotypeQuality
  all individuals: 28901
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-202117697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117697
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117697
    reference: chr 1
allele count: 1
allele frequency: 8.699131826643701e-6
allele num: 114954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*644C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.*25+12C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*705C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.*37C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.*37C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*432+12C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.*37C>T
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

1-202117703-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117703
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117703
    reference: chr 1
allele count: 1
allele frequency: 8.669117137110756e-6
allele num: 115352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.*31T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.*31T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*638T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*432+6T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*699T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.*31T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.*25+6T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.*31T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.*31T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.*31T>C
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16612
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.75e1
  variant carriers: 0
hgvs: c.*432+6T>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

1-202117704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117704
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117704
    reference: chr 1
allele count: 1
allele frequency: 8.663409224798143e-6
allele num: 115428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*637C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.*30C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.*30C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*698C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*432+5C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.*30C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.*25+5C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 3.25e1
  variant carriers: 0
hgvs: c.*432+5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-202117708-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117708
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117708
    reference: chr 1
allele count: 1
allele frequency: 8.640353908896108e-6
allele num: 115736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.*26G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.*26G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*432+1G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.*25+1G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*694G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.*26G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.*26G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*633G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.*26G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.*26G>T
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17268
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.75e1
  variant carriers: 0
hgvs: c.*432+1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-202117708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117708
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117708
    reference: chr 1
allele count: 1
allele frequency: 8.640353908896108e-6
allele num: 115736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*432+1G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*694G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*633G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.*26G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.*25+1G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.*26G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.*26G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
hgvs: c.*432+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-202117718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117718
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117718
    reference: chr 1
allele count: 474
allele frequency: 4.057107641741988e-3
allele num: 116832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.*16G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.*16G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.*16G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*684G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*623G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*423G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 28668
  bin: 2.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 3.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18555
  bin: 2.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 4
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-202117719-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117719
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117719
    reference: chr 1
allele count: 3
allele frequency: 2.560994348739137e-5
allele num: 117142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*683C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*622C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.*15C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*422C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.*15C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.*15C>T
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18948
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-202117725-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117725
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117725
    reference: chr 1
allele count: 2
allele frequency: 1.701751101883838e-5
allele num: 117526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.*9A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.*9A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.*9A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*416A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.*9A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*677A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.*9A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.*9A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*616A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.*9A>T
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-202117728-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117728
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117728
    reference: chr 1
allele count: 1
allele frequency: 8.480901010923401e-6
allele num: 117912
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.*6G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*613G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.*6G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.*6G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*413G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*674G>T
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/1-202117729-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117729
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117729
    reference: chr 1
allele count: 3
allele frequency: 2.541898967989019e-5
allele num: 118022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.*5T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*412T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.*5T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.*5T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.*5T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*612T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.*5T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.*5T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*673T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.*5T>G
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5949
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

1-202117738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117738
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117738
    reference: chr 1
allele count: 3
allele frequency: 2.529297698339094e-5
allele num: 118610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*603C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1394C>T
  hgvsp: ENSP00000309116.3:p.Pro465Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1079C>T
  hgvsp: ENSP00000311133.5:p.Pro360Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1196C>T
  hgvsp: ENSP00000356248.4:p.Pro399Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1079C>T
  hgvsp: ENSP00000420506.1:p.Pro360Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*403C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.407C>T
  hgvsp: ENSP00000438272.1:p.Pro136Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1322C>T
  hgvsp: ENSP00000418416.1:p.Pro441Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*664C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.566C>T
  hgvsp: ENSP00000444624.1:p.Pro189Leu
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29600
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro465Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

1-202117738-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117738
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117738
    reference: chr 1
allele count: 1
allele frequency: 8.430992327796981e-6
allele num: 118610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.407C>A
  hgvsp: ENSP00000438272.1:p.Pro136His
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*403C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.566C>A
  hgvsp: ENSP00000444624.1:p.Pro189His
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1322C>A
  hgvsp: ENSP00000418416.1:p.Pro441His
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1196C>A
  hgvsp: ENSP00000356248.4:p.Pro399His
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1079C>A
  hgvsp: ENSP00000420506.1:p.Pro360His
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1079C>A
  hgvsp: ENSP00000311133.5:p.Pro360His
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1394C>A
  hgvsp: ENSP00000309116.3:p.Pro465His
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*664C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*603C>A
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro465His
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-202117745-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117745
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117745
    reference: chr 1
allele count: 1
allele frequency: 8.410994852471151e-6
allele num: 118892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1072C>G
  hgvsp: ENSP00000420506.1:p.Pro358Ala
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*396C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*657C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*596C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1387C>G
  hgvsp: ENSP00000309116.3:p.Pro463Ala
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.559C>G
  hgvsp: ENSP00000444624.1:p.Pro187Ala
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1315C>G
  hgvsp: ENSP00000418416.1:p.Pro439Ala
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1189C>G
  hgvsp: ENSP00000356248.4:p.Pro397Ala
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.400C>G
  hgvsp: ENSP00000438272.1:p.Pro134Ala
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1072C>G
  hgvsp: ENSP00000311133.5:p.Pro358Ala
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro463Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-202117745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117745
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117745
    reference: chr 1
allele count: 1
allele frequency: 8.410994852471151e-6
allele num: 118892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1189C>T
  hgvsp: ENSP00000356248.4:p.Pro397Ser
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.400C>T
  hgvsp: ENSP00000438272.1:p.Pro134Ser
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1387C>T
  hgvsp: ENSP00000309116.3:p.Pro463Ser
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*396C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*657C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.559C>T
  hgvsp: ENSP00000444624.1:p.Pro187Ser
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1072C>T
  hgvsp: ENSP00000311133.5:p.Pro358Ser
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1315C>T
  hgvsp: ENSP00000418416.1:p.Pro439Ser
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*596C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1072C>T
  hgvsp: ENSP00000420506.1:p.Pro358Ser
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro463Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-202117748-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117748
    reference: chr 1
allele count: 1
allele frequency: 8.403361344537815e-6
allele num: 119000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*654G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1384G>A
  hgvsp: ENSP00000309116.3:p.Glu462Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1186G>A
  hgvsp: ENSP00000356248.4:p.Glu396Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1312G>A
  hgvsp: ENSP00000418416.1:p.Glu438Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1069G>A
  hgvsp: ENSP00000420506.1:p.Glu357Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.556G>A
  hgvsp: ENSP00000444624.1:p.Glu186Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.397G>A
  hgvsp: ENSP00000438272.1:p.Glu133Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*593G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1069G>A
  hgvsp: ENSP00000311133.5:p.Glu357Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*393G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6078
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu462Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-202117756-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117756
    reference: chr 1
allele count: 1
allele frequency: 8.38321345338095e-6
allele num: 119286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*646T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.389T>C
  hgvsp: ENSP00000438272.1:p.Leu130Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.548T>C
  hgvsp: ENSP00000444624.1:p.Leu183Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1178T>C
  hgvsp: ENSP00000356248.4:p.Leu393Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1376T>C
  hgvsp: ENSP00000309116.3:p.Leu459Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1061T>C
  hgvsp: ENSP00000420506.1:p.Leu354Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1304T>C
  hgvsp: ENSP00000418416.1:p.Leu435Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*585T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1061T>C
  hgvsp: ENSP00000311133.5:p.Leu354Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*385T>C
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu459Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-202117764-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117764
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117764
    reference: chr 1
allele count: 1
allele frequency: 8.368480953337351e-6
allele num: 119496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1170A>C
  hgvsp: ENST00000367279.4:c.1170A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*377A>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.540A>C
  hgvsp: ENST00000543735.1:c.540A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1053A>C
  hgvsp: ENST00000495688.1:c.1053A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1368A>C
  hgvsp: ENST00000309017.3:c.1368A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1053A>C
  hgvsp: ENST00000308986.5:c.1053A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.381A>C
  hgvsp: ENST00000544762.1:c.381A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1296A>C
  hgvsp: ENST00000477554.1:c.1296A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*638A>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*577A>C
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6138
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala456Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff

1-202117787-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117787
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117787
    reference: chr 1
allele count: 1
allele frequency: 8.358827757995218e-6
allele num: 119634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1030C>A
  hgvsp: ENSP00000311133.5:p.His344Asn
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*354C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1030C>A
  hgvsp: ENSP00000420506.1:p.His344Asn
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*615C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.517C>A
  hgvsp: ENSP00000444624.1:p.His173Asn
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*554C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1147C>A
  hgvsp: ENSP00000356248.4:p.His383Asn
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.358C>A
  hgvsp: ENSP00000438272.1:p.His120Asn
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1273C>A
  hgvsp: ENSP00000418416.1:p.His425Asn
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1345C>A
  hgvsp: ENSP00000309116.3:p.His449Asn
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His449Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-202117790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117790
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117790
    reference: chr 1
allele count: 5
allele frequency: 4.178505766337958e-5
allele num: 119660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.514C>T
  hgvsp: ENST00000543735.1:c.514C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1027C>T
  hgvsp: ENST00000495688.1:c.1027C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*612C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1270C>T
  hgvsp: ENST00000477554.1:c.1270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1027C>T
  hgvsp: ENST00000308986.5:c.1027C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*551C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1144C>T
  hgvsp: ENST00000367279.4:c.1144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.355C>T
  hgvsp: ENST00000544762.1:c.355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*351C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1342C>T
  hgvsp: ENST00000309017.3:c.1342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47218
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu448Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

1-202117803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117803
    reference: chr 1
allele count: 3
allele frequency: 2.512899551028613e-5
allele num: 119384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*599G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1131G>A
  hgvsp: ENST00000367279.4:c.1131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1329G>A
  hgvsp: ENST00000309017.3:c.1329G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.501G>A
  hgvsp: ENST00000543735.1:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1014G>A
  hgvsp: ENST00000308986.5:c.1014G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.342G>A
  hgvsp: ENST00000544762.1:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1257G>A
  hgvsp: ENST00000477554.1:c.1257G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1014G>A
  hgvsp: ENST00000495688.1:c.1014G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*538G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*338G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu443Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-202117805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117805
    reference: chr 1
allele count: 1
allele frequency: 8.378437253883405e-6
allele num: 119354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1327G>A
  hgvsp: ENSP00000309116.3:p.Glu443Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1129G>A
  hgvsp: ENSP00000356248.4:p.Glu377Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*336G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.340G>A
  hgvsp: ENSP00000438272.1:p.Glu114Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*597G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.499G>A
  hgvsp: ENSP00000444624.1:p.Glu167Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1012G>A
  hgvsp: ENSP00000311133.5:p.Glu338Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1012G>A
  hgvsp: ENSP00000420506.1:p.Glu338Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1255G>A
  hgvsp: ENSP00000418416.1:p.Glu419Lys
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*536G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu443Lys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-202117809-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117809
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117809
    reference: chr 1
allele count: 10
allele frequency: 8.390528771123157e-5
allele num: 119182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*332G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1323G>A
  hgvsp: ENST00000309017.3:c.1323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.495G>A
  hgvsp: ENST00000543735.1:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1125G>A
  hgvsp: ENST00000367279.4:c.1125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*593G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1008G>A
  hgvsp: ENST00000308986.5:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1251G>A
  hgvsp: ENST00000477554.1:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*532G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1008G>A
  hgvsp: ENST00000495688.1:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.336G>A
  hgvsp: ENST00000544762.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29036
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr441Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

1-202117810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117810
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117810
    reference: chr 1
allele count: 2
allele frequency: 1.678866429386878e-5
allele num: 119128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.335C>T
  hgvsp: ENSP00000438272.1:p.Thr112Met
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.1007C>T
  hgvsp: ENSP00000420506.1:p.Thr336Met
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*531C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.494C>T
  hgvsp: ENSP00000444624.1:p.Thr165Met
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*331C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1322C>T
  hgvsp: ENSP00000309116.3:p.Thr441Met
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1250C>T
  hgvsp: ENSP00000418416.1:p.Thr417Met
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1124C>T
  hgvsp: ENSP00000356248.4:p.Thr375Met
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.1007C>T
  hgvsp: ENSP00000311133.5:p.Thr336Met
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*592C>T
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr441Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-202117821-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117821
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117821
    reference: chr 1
allele count: 1
allele frequency: 8.465393471488555e-6
allele num: 118128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1113G>A
  hgvsp: ENST00000367279.4:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.996G>A
  hgvsp: ENST00000495688.1:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*320G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.483G>A
  hgvsp: ENST00000543735.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1239G>A
  hgvsp: ENST00000477554.1:c.1239G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.996G>A
  hgvsp: ENST00000308986.5:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*520G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*581G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.324G>A
  hgvsp: ENST00000544762.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1311G>A
  hgvsp: ENST00000309017.3:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly437Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

1-202117824-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117824
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117824
    reference: chr 1
allele count: 29
allele frequency: 2.45783540978049e-4
allele num: 117990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*578G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.321G>C
  hgvsp: ENST00000544762.1:c.321G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*517G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1110G>C
  hgvsp: ENST00000367279.4:c.1110G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.993G>C
  hgvsp: ENST00000495688.1:c.993G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.480G>C
  hgvsp: ENST00000543735.1:c.480G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1308G>C
  hgvsp: ENST00000309017.3:c.1308G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1236G>C
  hgvsp: ENST00000477554.1:c.1236G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.993G>C
  hgvsp: ENST00000308986.5:c.993G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*317G>C
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21098
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26953
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly436Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-202117832-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117832
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117832
    reference: chr 1
allele count: 710
allele frequency: 6.08877607025247e-3
allele num: 116608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-5T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-5T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-5T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-5T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-5T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-5T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-5T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-5T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-5T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-5T>C
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 24361
  bin: 2.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 20204
  bin: 2.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 3.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: c.1305-5T>C
num of homozygotes: 11
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-202117837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117837
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117837
    reference: chr 1
allele count: 1
allele frequency: 8.658158582832603e-6
allele num: 115498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-10C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-10C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-10C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-10C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-10C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-10C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-10C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-10C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-10C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-10C>T
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-202117841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117841
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117841
    reference: chr 1
allele count: 505
allele frequency: 4.394284819268721e-3
allele num: 114922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-14G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-14G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-14G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-14G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-14G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-14G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-14G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-14G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-14G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-14G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 18487
  bin: 2.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 20709
  bin: 2.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 9.75e1
  variant carriers: 482
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 11
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-202117844-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117844
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117844
    reference: chr 1
allele count: 1
allele frequency: 8.757487651942411e-6
allele num: 114188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-17T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-17T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-17T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-17T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-17T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-17T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-17T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-17T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-17T>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-17T>G
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-202117845-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117845
    reference: chr 1
allele count: 1
allele frequency: 8.764241893076249e-6
allele num: 114100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-18G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-18G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-18G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-18G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-18G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-18G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-18G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-18G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-18G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-18G>C
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17576
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-202117845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117845
    reference: chr 1
allele count: 2
allele frequency: 1.75284837861525e-5
allele num: 114100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-18G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-18G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-18G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-18G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-18G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-18G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-18G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-18G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-18G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-18G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17576
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-202117849-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117849
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117849
    reference: chr 1
allele count: 1
allele frequency: 8.830801836806782e-6
allele num: 113240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-22G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-22G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-22G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-22G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-22G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-22G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-22G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-22G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-22G>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-22G>T
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-202117853-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117853
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117853
    reference: chr 1
allele count: 1
allele frequency: 8.898538859919202e-6
allele num: 112378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-26C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-26C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-26C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-26C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-26C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-26C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-26C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-26C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-26C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-26C>G
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

1-202117855-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117855
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117855
    reference: chr 1
allele count: 1
allele frequency: 8.937668698496684e-6
allele num: 111886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-28C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-28C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-28C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-28C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-28C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-28C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-28C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-28C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-28C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-28C>G
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11784
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

1-202117859-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117859
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117859
    reference: chr 1
allele count: 1
allele frequency: 9.009658353755226e-6
allele num: 110992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-32T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-32T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-32T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-32T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-32T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-32T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-32T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-32T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-32T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-32T>C
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12714
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-202117864-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117864
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117864
    reference: chr 1
allele count: 1
allele frequency: 9.136592051164915e-6
allele num: 109450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-37C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-37C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-37C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-37C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-37C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-37C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-37C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-37C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-37C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-37C>G
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5960
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-202117865-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117865
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117865
    reference: chr 1
allele count: 7
allele frequency: 6.397952655150352e-5
allele num: 109410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-38C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-38C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-38C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-38C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-38C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-38C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-38C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-38C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-38C>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-38C>A
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19715
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

1-202117871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202117871
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202117871
    reference: chr 1
allele count: 2
allele frequency: 1.878322282537238e-5
allele num: 106478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*514-44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1107-44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*575-44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.318-44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1305-44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.990-44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.477-44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1233-44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*314-44C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.990-44C>T
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19042
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6259
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-202119363-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119363
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119363
    reference: chr 1
allele count: 1
allele frequency: 3.771307889576105e-5
allele num: 26516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+76A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+76A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+76A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+76A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+76A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+76A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+76A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+76A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+76A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1211A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+76A>G
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-202119366-C-CAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119366
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119369
    reference: chr 1
allele count: 1
allele frequency: 3.768749528906309e-5
allele num: 26534
alternate allele: CAGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1205_1207dupTCT
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+70_317+72dupTCT
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+70_*513+72dupTCT
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+70_989+72dupTCT
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+70_1232+72dupTCT
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+70_989+72dupTCT
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+70_*574+72dupTCT
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+70_476+72dupTCT
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+70_1106+72dupTCT
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+70_*313+72dupTCT
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+70_1304+72dupTCT
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

1-202119366-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119366
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119366
    reference: chr 1
allele count: 1
allele frequency: 3.768749528906309e-5
allele num: 26534
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+73G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+73G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+73G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+73G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+73G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+73G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+73G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+73G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1208G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+73G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+73G>C
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19810
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-202119370-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119370
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119370
    reference: chr 1
allele count: 1
allele frequency: 3.723285427060839e-5
allele num: 26858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1204T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+69T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+69T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+69T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+69T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+69T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+69T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+69T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+69T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+69T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+69T>C
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-202119373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119373
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119373
    reference: chr 1
allele count: 24
allele frequency: 8.882966910948257e-4
allele num: 27018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1201G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+66G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+66G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+66G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+66G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+66G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+66G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+66G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+66G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+66G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+66G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24337
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21457
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-202119394-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119394
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119394
    reference: chr 1
allele count: 20
allele frequency: 6.480881399870382e-4
allele num: 30860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+45C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+45C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+45C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1180C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+45C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+45C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+45C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+45C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+45C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+45C>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+45C>G
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29759
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14808
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

1-202119400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119400
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119400
    reference: chr 1
allele count: 1
allele frequency: 3.021513173797438e-5
allele num: 33096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+39G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+39G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1174G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+39G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+39G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+39G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+39G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+39G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+39G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+39G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+39G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31640
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

1-202119401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119401
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119401
    reference: chr 1
allele count: 2
allele frequency: 5.928033671231253e-5
allele num: 33738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+38C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+38C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+38C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+38C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+38C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1173C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+38C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+38C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+38C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+38C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+38C>T
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11060
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

1-202119406-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119406
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119406
    reference: chr 1
allele count: 1
allele frequency: 2.743634767339772e-5
allele num: 36448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+33G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+33G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+33G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+33G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+33G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+33G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+33G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1168G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+33G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+33G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+33G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

1-202119407-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119407
    reference: chr 1
allele count: 3
allele frequency: 7.998293697344567e-5
allele num: 37508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+32C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+32C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+32C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+32C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+32C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+32C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+32C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1167C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+32C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+32C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+32C>T
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33473
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

1-202119411-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119411
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119411
    reference: chr 1
allele count: 1
allele frequency: 2.495881795038187e-5
allele num: 40066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1163A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+28A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+28A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+28A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+28A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+28A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+28A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+28A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+28A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+28A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+28A>G
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-202119417-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119417
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119417
    reference: chr 1
allele count: 1
allele frequency: 2.170421495854495e-5
allele num: 46074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+22A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+22A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+22A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1157A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+22A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+22A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+22A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+22A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+22A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+22A>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+22A>T
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-202119422-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119422
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119422
    reference: chr 1
allele count: 1
allele frequency: 1.961168856638557e-5
allele num: 50990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+17A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+17A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+17A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1152A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+17A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+17A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+17A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+17A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+17A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+17A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+17A>G
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-202119427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119427
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119427
    reference: chr 1
allele count: 3
allele frequency: 5.34207058655935e-5
allele num: 56158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.476+12G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1304+12G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1232+12G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*313+12G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*513+12G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.317+12G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.989+12G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1147G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*574+12G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.989+12G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1106+12G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

1-202119445-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119445
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119445
    reference: chr 1
allele count: 1
allele frequency: 1.227536089561033e-5
allele num: 81464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*507T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.983T>C
  hgvsp: ENSP00000420506.1:p.Leu328Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1226T>C
  hgvsp: ENSP00000418416.1:p.Leu409Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*307T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1129T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1298T>C
  hgvsp: ENSP00000309116.3:p.Leu433Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.983T>C
  hgvsp: ENSP00000311133.5:p.Leu328Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.470T>C
  hgvsp: ENSP00000444624.1:p.Leu157Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*568T>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.311T>C
  hgvsp: ENSP00000438272.1:p.Leu104Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1100T>C
  hgvsp: ENSP00000356248.4:p.Leu367Pro
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu433Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-202119446-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119446
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119447
    reference: chr 1
allele count: 1
allele frequency: 1.215687227989983e-5
allele num: 82258
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.981dupG
  hgvsp: ENSP00000420506.1:p.Leu328AlafsTer29
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1296dupG
  hgvsp: ENSP00000309116.3:p.Leu433AlafsTer29
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1127dupG
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*566dupG
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.981dupG
  hgvsp: ENSP00000311133.5:p.Leu328AlafsTer29
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1224dupG
  hgvsp: ENSP00000418416.1:p.Leu409AlafsTer29
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*305dupG
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.309dupG
  hgvsp: ENSP00000438272.1:p.Leu104AlafsTer29
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*505dupG
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1098dupG
  hgvsp: ENSP00000356248.4:p.Leu367AlafsTer29
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.468dupG
  hgvsp: ENSP00000444624.1:p.Leu157AlafsTer29
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18700
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu433AlafsTer29
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-202119448-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119448
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119448
    reference: chr 1
allele count: 1
allele frequency: 1.185143046765745e-5
allele num: 84378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*565G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.980G>C
  hgvsp: ENSP00000420506.1:p.Arg327Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.308G>C
  hgvsp: ENSP00000438272.1:p.Arg103Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*304G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.467G>C
  hgvsp: ENSP00000444624.1:p.Arg156Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.980G>C
  hgvsp: ENSP00000311133.5:p.Arg327Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1295G>C
  hgvsp: ENSP00000309116.3:p.Arg432Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1126G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1223G>C
  hgvsp: ENSP00000418416.1:p.Arg408Pro
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*504G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1097G>C
  hgvsp: ENSP00000356248.4:p.Arg366Pro
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg432Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-202119448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119448
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119448
    reference: chr 1
allele count: 2
allele frequency: 2.370286093531489e-5
allele num: 84378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*304G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.980G>A
  hgvsp: ENSP00000420506.1:p.Arg327Gln
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1097G>A
  hgvsp: ENSP00000356248.4:p.Arg366Gln
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.308G>A
  hgvsp: ENSP00000438272.1:p.Arg103Gln
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.467G>A
  hgvsp: ENSP00000444624.1:p.Arg156Gln
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1295G>A
  hgvsp: ENSP00000309116.3:p.Arg432Gln
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*504G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*565G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1223G>A
  hgvsp: ENSP00000418416.1:p.Arg408Gln
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.980G>A
  hgvsp: ENSP00000311133.5:p.Arg327Gln
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1126G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg432Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-202119449-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119449
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119449
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 85702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*303C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.979C>T
  hgvsp: ENSP00000311133.5:p.Arg327Trp
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1222C>T
  hgvsp: ENSP00000418416.1:p.Arg408Trp
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.979C>T
  hgvsp: ENSP00000420506.1:p.Arg327Trp
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1294C>T
  hgvsp: ENSP00000309116.3:p.Arg432Trp
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1125C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1096C>T
  hgvsp: ENSP00000356248.4:p.Arg366Trp
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.466C>T
  hgvsp: ENSP00000444624.1:p.Arg156Trp
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.307C>T
  hgvsp: ENSP00000438272.1:p.Arg103Trp
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*564C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*503C>T
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg432Trp
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

1-202119450-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119450
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119450
    reference: chr 1
allele count: 1
allele frequency: 1.147894761008311e-5
allele num: 87116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1221G>A
  hgvsp: ENST00000477554.1:c.1221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1293G>A
  hgvsp: ENST00000309017.3:c.1293G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.978G>A
  hgvsp: ENST00000308986.5:c.978G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.306G>A
  hgvsp: ENST00000544762.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1095G>A
  hgvsp: ENST00000367279.4:c.1095G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*563G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.465G>A
  hgvsp: ENST00000543735.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*502G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1124G>A
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.978G>A
  hgvsp: ENST00000495688.1:c.978G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*302G>A
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu431Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-202119452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119452
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119452
    reference: chr 1
allele count: 2
allele frequency: 2.235586058885337e-5
allele num: 89462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*561C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1093C>T
  hgvsp: ENST00000367279.4:c.1093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1219C>T
  hgvsp: ENST00000477554.1:c.1219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.304C>T
  hgvsp: ENST00000544762.1:c.304C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.976C>T
  hgvsp: ENST00000495688.1:c.976C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1122C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*500C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*300C>T
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1291C>T
  hgvsp: ENST00000309017.3:c.1291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.463C>T
  hgvsp: ENST00000543735.1:c.463C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.976C>T
  hgvsp: ENST00000308986.5:c.976C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu431Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

1-202119461-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119461
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119461
    reference: chr 1
allele count: 1
allele frequency: 1.04705463531087e-5
allele num: 95506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*491G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.967G>C
  hgvsp: ENSP00000311133.5:p.Val323Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.295G>C
  hgvsp: ENSP00000438272.1:p.Val99Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.967G>C
  hgvsp: ENSP00000420506.1:p.Val323Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1084G>C
  hgvsp: ENSP00000356248.4:p.Val362Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1210G>C
  hgvsp: ENSP00000418416.1:p.Val404Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1113G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*291G>C
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.454G>C
  hgvsp: ENSP00000444624.1:p.Val152Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1282G>C
  hgvsp: ENSP00000309116.3:p.Val428Leu
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*552G>C
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val428Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-202119464-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119464
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 202119464
    reference: chr 1
allele count: 1
allele frequency: 1.031161706778857e-5
allele num: 96978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000356248
  ensembl transcript: ENST00000367279
  gene symbol: PTPN7
  hgvsc: ENST00000367279.4:c.1081A>G
  hgvsp: ENSP00000356248.4:p.Ile361Val
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000418416
  ensembl transcript: ENST00000477554
  gene symbol: PTPN7
  hgvsc: ENST00000477554.1:c.1207A>G
  hgvsp: ENSP00000418416.1:p.Ile403Val
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419523
  ensembl transcript: ENST00000496197
  gene symbol: PTPN7
  hgvsc: ENST00000496197.1:c.*488A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000309116
  ensembl transcript: ENST00000309017
  gene symbol: PTPN7
  hgvsc: ENST00000309017.3:c.1279A>G
  hgvsp: ENSP00000309116.3:p.Ile427Val
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000438272
  ensembl transcript: ENST00000544762
  gene symbol: PTPN7
  hgvsc: ENST00000544762.1:c.292A>G
  hgvsp: ENSP00000438272.1:p.Ile98Val
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000311133
  ensembl transcript: ENST00000308986
  gene symbol: PTPN7
  hgvsc: ENST00000308986.5:c.964A>G
  hgvsp: ENSP00000311133.5:p.Ile322Val
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000420506
  ensembl transcript: ENST00000495688
  gene symbol: PTPN7
  hgvsc: ENST00000495688.1:c.964A>G
  hgvsp: ENSP00000420506.1:p.Ile322Val
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419733
  ensembl transcript: ENST00000480836
  gene symbol: PTPN7
  hgvsc: ENST00000480836.1:c.*549A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000444624
  ensembl transcript: ENST00000543735
  gene symbol: PTPN7
  hgvsc: ENST00000543735.1:c.451A>G
  hgvsp: ENSP00000444624.1:p.Ile151Val
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143851
  ensembl transcript: ENST00000492977
  gene symbol: PTPN7
  hgvsc: ENST00000492977.1:n.1110A>G
  variant of: http://identifiers.org/hgnc/9659
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143851
  ensembl protein: ENSP00000419196
  ensembl transcript: ENST00000462815
  gene symbol: PTPN7
  hgvsc: ENST00000462815.1:c.*288A>G
  variant of: http://identifiers.org/hgnc/9659
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile427Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-202119465-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 202119465
allele count: 13
allele frequency: 1.336623483446432e-4
allele num: 97260
alternate allele: G
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Gly426Gly
num of homozygotes: 0
reference allele: A

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

FS
type: SiteQuality
SIO_000300: 1.0267e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-1

DP
type: SiteQuality
SIO_000300: 1.303862e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.234e0

VQSLOD
type: SiteQuality
SIO_000300: -5.027e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.417e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62884
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.424242424242424e-4
allele num: 8250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.304018e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.783e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.584e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.347e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596882884609243e-5
allele num: 62622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

DP
type: SiteQuality
SIO_000300: 1.29393e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.084e0

QD
type: SiteQuality
SIO_000300: 6.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.208e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.280605e6

FS
type: SiteQuality
SIO_000300: 6.515e0

MQ
type: SiteQuality
SIO_000300: 5.707e1

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

QD
type: SiteQuality
SIO_000300: 1.341e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

VQSLOD
type: SiteQuality
SIO_000300: -3.108e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 5.42e0

MQ
type: SiteQuality
SIO_000300: 5.801e1

MQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.262e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

DP
type: SiteQuality
SIO_000300: 1.240748e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.208095356344674e-5
allele num: 16108
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

FS
type: SiteQuality
SIO_000300: 3.388e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.349e1

VQSLOD
type: SiteQuality
SIO_000300: -6.321e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.159e0

DP
type: SiteQuality
SIO_000300: 1.192595e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.662178783950002e-5
allele num: 60162
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.39e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

QD
type: SiteQuality
SIO_000300: 1.698e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-1

DP
type: SiteQuality
SIO_000300: 1.165491e6

GenotypeQuality
all individuals: 586
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2211
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.284191601386927e-4
allele num: 15574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 1.091e1

DP
type: SiteQuality
SIO_000300: 1.363361e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e0

GenotypeQuality
all individuals: 3272
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5161
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56897200953935e-5
allele num: 63736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 8.913e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e0

QD
type: SiteQuality
SIO_000300: 1.53e1

MQRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.747e-1

DP
type: SiteQuality
SIO_000300: 1.407237e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.446e0

GenotypeQuality
all individuals: 585
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5383
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3078
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1885
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38054
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1951
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564847270906359e-5
allele num: 63904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15742
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 8.871e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

QD
type: SiteQuality
SIO_000300: 1.171e1

DP
type: SiteQuality
SIO_000300: 1.436229e6

VQSLOD
type: SiteQuality
SIO_000300: -1.003e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.923e1

GenotypeQuality
all individuals: 37930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3060
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 817
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564112991522508e-5
allele num: 63934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -1.25e0

DP
type: SiteQuality
SIO_000300: 1.438736e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.343e0

MQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

QD
type: SiteQuality
SIO_000300: 7.84e0

GenotypeQuality
all individuals: 528
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2913
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39822
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 615
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180916391119509e-4
allele num: 8468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

QD
type: SiteQuality
SIO_000300: 1.95e1

VQSLOD
type: SiteQuality
SIO_000300: -1.96e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 1.456615e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.678e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.88e-1

GenotypeQuality
all individuals: 2913
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39822
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560208443848098e-5
allele num: 64094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.96e0

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 1.456615e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.678e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.95e1

GenotypeQuality
all individuals: 367
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 366
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1025
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 773
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2360
bin: 9.75e1
variant carriers: 461

GenotypeQuality
all individuals: 183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5579
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 136
allele frequency: 2.470032691609154e-2
allele num: 5506
num of homozygotes: 3

Other
type: Population
allele count: 4
allele frequency: 4.819277108433735e-3
allele num: 830
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.002000800320128e-4
allele num: 9996
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.202484180923366e-4
allele num: 8534
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.546099290780142e-4
allele num: 11280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 295
allele frequency: 4.564161277346288e-3
allele num: 64634
num of homozygotes: 1

South Asian
type: Population
allele count: 23
allele frequency: 1.432843259406927e-3
allele num: 16052
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

DP
type: SiteQuality
SIO_000300: 1.50368e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

QD
type: SiteQuality
SIO_000300: 1.446e1

GenotypeQuality
all individuals: 43829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 225
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 580
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5750
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.631344942571323e-5
allele num: 64776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.505003e6

QD
type: SiteQuality
SIO_000300: 1.208e1

MQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

FS
type: SiteQuality
SIO_000300: 6.919999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
all individuals: 1253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44231
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.077585941587419e-5
allele num: 64986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.026e0

DP
type: SiteQuality
SIO_000300: 1.519507e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.21e-1

QD
type: SiteQuality
SIO_000300: 1.407e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5932
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44639
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65134
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.149305128520478e-5
allele num: 16262
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

DP
type: SiteQuality
SIO_000300: 1.524408e6

QD
type: SiteQuality
SIO_000300: 1.278e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65196
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.843431240014748e-4
allele num: 16274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 6.557e0

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

DP
type: SiteQuality
SIO_000300: 1.526129e6

QD
type: SiteQuality
SIO_000300: 1.381e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6038
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 395
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45827
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.580292528016123e-5
allele num: 65498
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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SIO_000300: 6.5e-1

MQRankSum
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SIO_000300: 1.26e0

ClippingRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.536785e6

VQSLOD
type: SiteQuality
SIO_000300: 3.05e-1

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.526764176005374e-5
allele num: 65498
num of homozygotes: 0

Other
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allele num: 850
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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
allele num: 5712
num of homozygotes: 0

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

East Asian
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allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523043650431021e-5
allele num: 65658
num of homozygotes: 0

Other
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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
allele num: 10160
num of homozygotes: 0

Latino
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
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SIO_000300: 1.7e0

ReadPosRankSum
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SIO_000300: 3.05e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.541392e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
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SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.514e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5774
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.358e0

FS
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SIO_000300: 1.182e0

MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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SIO_000300: 5.29e-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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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.51851064475962e-5
allele num: 65854
num of homozygotes: 0

South Asian
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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Latino
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East Asian
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European (Non-Finnish)
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Other
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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FS
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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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African
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allele frequency: 9.75800156128025e-5
allele num: 10248
num of homozygotes: 0

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

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

European (Finnish)
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QD
type: SiteQuality
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FS
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6138
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.799118533982835e-4
allele num: 8622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 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: 10252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66048
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

FS
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.947e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.556609e6

QD
type: SiteQuality
SIO_000300: 1.131e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 251
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46548
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.835086860778077e-4
allele num: 16348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5936
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 9.057e0

DP
type: SiteQuality
SIO_000300: 1.551077e6

VQSLOD
type: SiteQuality
SIO_000300: -1.257e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.14e0

QD
type: SiteQuality
SIO_000300: 9.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

GenotypeQuality
all individuals: 255
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
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GenotypeQuality
all individuals: 46626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
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variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517082347229808e-5
allele num: 65916
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.547e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

FS
type: SiteQuality
SIO_000300: 2.526e0

MQRankSum
type: SiteQuality
SIO_000300: -1.017e0

VQSLOD
type: SiteQuality
SIO_000300: -1.989e-1

QD
type: SiteQuality
SIO_000300: 9.34e0

DP
type: SiteQuality
SIO_000300: 1.550496e6

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
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variant carriers: 10

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6031
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.555808656036447e-5
allele num: 65850
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.683693516699411e-4
allele num: 16288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 1.846e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 2.069e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 1.547698e6

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
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GenotypeQuality
all individuals: 196
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variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6025
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1067
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46269
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65826
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.141751627564181e-5
allele num: 16282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.546639e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

GenotypeQuality
all individuals: 309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5741
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
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GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 569
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variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 176
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GenotypeQuality
all individuals: 533
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 1171
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variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1914
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 351
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.852691218130312e-5
allele num: 11296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

QD
type: SiteQuality
SIO_000300: 3.67e0

VQSLOD
type: SiteQuality
SIO_000300: -2.449e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.528929e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 548
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variant carriers: 0

GenotypeQuality
all individuals: 3153
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 259
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GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 5706
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GenotypeQuality
all individuals: 1154
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 258
bin: 9.25e1
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GenotypeQuality
all individuals: 624
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
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variant carriers: 0

GenotypeQuality
all individuals: 525
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GenotypeQuality
all individuals: 44438
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 28
allele frequency: 2.770631308133782e-3
allele num: 10106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.865248226950355e-5
allele num: 11280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.522864e6

FS
type: SiteQuality
SIO_000300: 5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.881e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.19e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 471
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GenotypeQuality
all individuals: 1089
bin: 2.75e1
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GenotypeQuality
all individuals: 1051
bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 200
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GenotypeQuality
all individuals: 5150
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 390
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GenotypeQuality
all individuals: 5295
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 529
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 386
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GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1058
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 9.75e1
variant carriers: 690

GenotypeQuality
all individuals: 894
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 62
allele frequency: 3.918099089989888e-3
allele num: 15824
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.015433954700341e-4
allele num: 9978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.962704775182991e-3
allele num: 5738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 354
allele frequency: 5.48004582185207e-3
allele num: 64598
num of homozygotes: 5

Latino
type: Population
allele count: 268
allele frequency: 2.410939186757827e-2
allele num: 11116
num of homozygotes: 6

Other
type: Population
allele count: 2
allele frequency: 2.347417840375587e-3
allele num: 852
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

QD
type: SiteQuality
SIO_000300: 1.248e1

FS
type: SiteQuality
SIO_000300: 1.406e0

DP
type: SiteQuality
SIO_000300: 1.488394e6

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 798
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.375924509053813e-5
allele num: 15684
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.661e0

DP
type: SiteQuality
SIO_000300: 1.440248e6

FS
type: SiteQuality
SIO_000300: 0.0e0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.819e0

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.415191172696946e-5
allele num: 15588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.136959658698789e-5
allele num: 63756
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.562945368171022e-3
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.752120988565105e-3
allele num: 10844
num of homozygotes: 0

African
type: Population
allele count: 480
allele frequency: 4.866180048661801e-2
allele num: 9864
num of homozygotes: 11

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

DP
type: SiteQuality
SIO_000300: 1.421413e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.573e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10760
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

DP
type: SiteQuality
SIO_000300: 1.377625e6

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.504e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

FS
type: SiteQuality
SIO_000300: 1.1292e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 2.09e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9870
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GenotypeQuality
all individuals: 73
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.197604790419162e-4
allele num: 8350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 9.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.377869e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579229967467863e-5
allele num: 63322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.024590163934426e-4
allele num: 9760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 9.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 1.377869e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.503642039542144e-5
allele num: 15376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62912
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.385e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
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SIO_000300: -1.474e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601229744443733e-5
allele num: 62452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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QD
type: SiteQuality
SIO_000300: 2.115e1

ReadPosRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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DP
type: SiteQuality
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MQ
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SIO_000300: 5.79e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607303587501607e-5
allele num: 62216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5394
num of homozygotes: 0

South Asian
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allele count: 0
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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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

FS
type: SiteQuality
SIO_000300: 3.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.323e0

VQSLOD
type: SiteQuality
SIO_000300: -4.009e-1

DP
type: SiteQuality
SIO_000300: 1.218138e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.618070612601534e-5
allele num: 61802
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15066
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

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

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

QD
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
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SIO_000300: -1.156e0

ReadPosRankSum
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SIO_000300: 2.26e0

MQRankSum
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SIO_000300: 3.52e-1

VQSLOD
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SIO_000300: -1.701e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
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SIO_000300: -2.362e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 60996
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.070434596446157e-4
allele num: 9342
num of homozygotes: 0

South Asian
type: Population
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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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

InbreedingCoeff
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SIO_000300: -3.5e-3

VQSLOD
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FS
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SIO_000300: 0.0e0

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

DP
type: SiteQuality
SIO_000300: 1.130046e6

BaseQRankSum
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SIO_000300: -4.424e0

QD
type: SiteQuality
SIO_000300: 1.11e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 4
allele frequency: 4.285408185129633e-4
allele num: 9334
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.959747434885557e-4
allele num: 10136
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.123161e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 6.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 1.28e1

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.361796544073152e-5
allele num: 59492
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14424
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
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SIO_000300: -4.8e-3

QD
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SIO_000300: 1.116e1

FS
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.526e0

DP
type: SiteQuality
SIO_000300: 1.079602e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.207485226526592e-5
allele num: 12184
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 242
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 990
num of homozygotes: 0

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

QD
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ReadPosRankSum
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MQ
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DP
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

African
type: Population
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 8.202099737532808e-5
allele num: 12192
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DP
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ClippingRankSum
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QD
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele num: 240
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 8.202099737532808e-5
allele num: 12192
num of homozygotes: 0

African
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East Asian
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Latino
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DP
type: SiteQuality
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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QD
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FS
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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allele frequency: 5.140692640692641e-3
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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DP
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MQRankSum
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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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Other
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African
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East Asian
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

African
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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Other
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FS
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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DP
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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InbreedingCoeff
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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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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European (Non-Finnish)
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Other
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European (Finnish)
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East Asian
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ReadPosRankSum
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SIO_000300: 3.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.899e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 8.59e0

DP
type: SiteQuality
SIO_000300: 7.28581e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.363763309478094e-5
allele num: 22916
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4694
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.355e0

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

ClippingRankSum
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SIO_000300: -4.92e-1

ReadPosRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

QD
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SIO_000300: 1.791e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

DP
type: SiteQuality
SIO_000300: 7.79e5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

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

East Asian
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allele 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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4460
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.992825827022718e-4
allele num: 5018
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 25532
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

BaseQRankSum
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SIO_000300: 2.71e0

DP
type: SiteQuality
SIO_000300: 8.20652e5

FS
type: SiteQuality
SIO_000300: 1.384e0

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 1.518e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 637
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1872
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10740
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 1.060745350399547e-4
allele num: 28282
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.558e-1

ClippingRankSum
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

FS
type: SiteQuality
SIO_000300: 2.498e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

DP
type: SiteQuality
SIO_000300: 8.64858e5

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.379026502355236e-5
allele num: 42034
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
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SIO_000300: 2.18e0

MQRankSum
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ClippingRankSum
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FS
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: 1.32e0

DP
type: SiteQuality
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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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.350286734981668e-5
allele num: 42548
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12692
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.43e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8876
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.392757660167131e-4
allele num: 7180
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12826
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 644
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

DP
type: SiteQuality
SIO_000300: 1.099558e6

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.558716265499635e-5
allele num: 43872
num of homozygotes: 0

MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-1

ReadPosRankSum
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DP
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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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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 2868
bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44656
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.032e-1

FS
type: SiteQuality
SIO_000300: 2.11e0

DP
type: SiteQuality
SIO_000300: 1.113503e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.1e0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3930
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.196354052273227e-5
allele num: 45530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.052e0

DP
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SIO_000300: 1.121617e6

QD
type: SiteQuality
SIO_000300: 6.41e0

FS
type: SiteQuality
SIO_000300: 6.154e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 343
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.256768261535842e-5
allele num: 46984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13244
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.141735e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

FS
type: SiteQuality
SIO_000300: 1.174e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeDepth
all individuals: 125
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 331
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.965254303906926e-5
allele num: 50884
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 5.564e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

DP
type: SiteQuality
SIO_000300: 1.193854e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.118e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.48e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

QD
type: SiteQuality
SIO_000300: 1.17e1

GenotypeDepth
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 226
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GenotypeQuality
all individuals: 679
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variant carriers: 0

GenotypeQuality
all individuals: 875
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variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
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variant carriers: 0

GenotypeQuality
all individuals: 121
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variant carriers: 0

GenotypeQuality
all individuals: 193
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variant carriers: 0

GenotypeQuality
all individuals: 282
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variant carriers: 0

GenotypeQuality
all individuals: 452
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variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12646
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.929235636840684e-5
allele num: 51834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.296e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 7.44e0

DP
type: SiteQuality
SIO_000300: 1.205055e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0