16-72184754-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72184754
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72184754
    reference: chr 16
allele count: 1
allele frequency: 8.306613725848521e-6
allele num: 120386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-21-26A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.415-26A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.415-26A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.415-26A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*225-26A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14034
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-72184759-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72184759
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72184759
    reference: chr 16
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.415-31G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-21-31G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*225-31G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.415-31G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.415-31G>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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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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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14026
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

16-72184771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72184771
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72184771
    reference: chr 16
allele count: 7
allele frequency: 5.828185103158876e-5
allele num: 120106
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.415-43G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.415-43G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-21-43G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.415-43G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*225-43G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
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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: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 7
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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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

16-72184772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72184772
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72184772
    reference: chr 16
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.415-44C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.415-44C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*225-44C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.415-44C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-21-44C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  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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  bin: 3.75e1
  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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13991
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6924
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

16-72184776-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72184776
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72184776
    reference: chr 16
allele count: 1
allele frequency: 8.333611120370679e-6
allele num: 119996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.415-48A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-21-48A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.415-48A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*225-48A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.415-48A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13991
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

16-72184780-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72184780
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72184780
    reference: chr 16
allele count: 1
allele frequency: 8.35282325425994e-6
allele num: 119720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*225-52C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.415-52C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.415-52C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-21-52C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.415-52C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9657
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 9902
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4856
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 9.25e1
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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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genotype quality: GenotypeQuality
  all individuals: 13989
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

16-72188069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188069
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188069
    reference: chr 16
allele count: 11
allele frequency: 9.15949173147701e-5
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.414+41G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.414+41G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*224+41G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-22+41G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.414+41G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 2673
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1945
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2671
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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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 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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  bin: 9.75e1
  variant carriers: 11
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: 728
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

16-72188080-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188080
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188080
    reference: chr 16
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.414+30C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-22+30C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*224+30C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.414+30C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.414+30C>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  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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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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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

16-72188081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188081
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188081
    reference: chr 16
allele count: 23
allele frequency: 1.909284101474299e-4
allele num: 120464
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.414+29C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*224+29C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.414+29C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-22+29C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.414+29C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 40659
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

16-72188091-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188091
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188091
    reference: chr 16
allele count: 3
allele frequency: 2.481882259505609e-5
allele num: 120876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.414+19T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.414+19T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-22+19T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*224+19T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.414+19T>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 7803
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40657
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

16-72188092-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188092
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188092
    reference: chr 16
allele count: 2
allele frequency: 1.654177625593436e-5
allele num: 120906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*224+18A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.414+18A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.414+18A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-22+18A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.414+18A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
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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: 1299
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

16-72188106-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188106
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188106
    reference: chr 16
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-22+4T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.414+4T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.414+4T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.414+4T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*224+4T>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 5.25e1
  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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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40659
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: c.414+4T>C
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-72188109-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188109
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188109
    reference: chr 16
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*224+1G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.414+1G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.414+1G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-22+1G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.414+1G>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4
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genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 924
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 27
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1943
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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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
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 1300
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 2742
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 8259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.25e1
  variant carriers: 0
hgvs: c.414+1G>T
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

16-72188127-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188127
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188127
    reference: chr 16
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.397A>G
  hgvsp: ENSP00000443817.1:p.Lys133Glu
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-39A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.397A>G
  hgvsp: ENSP00000237353.10:p.Lys133Glu
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*207A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.397A>G
  hgvsp: ENSP00000444953.1:p.Lys133Glu
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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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: 2672
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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
  all individuals: 2
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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: 1
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genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys133Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

16-72188137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188137
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188137
    reference: chr 16
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*197C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-49C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.387C>T
  hgvsp: ENST00000537465.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.387C>T
  hgvsp: ENST00000237353.10:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.387C>T
  hgvsp: ENST00000535461.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 3484
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genotype depth: GenotypeDepth
  all individuals: 1943
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genotype depth: GenotypeDepth
  all individuals: 924
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genotype depth: GenotypeDepth
  all individuals: 3533
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genotype depth: GenotypeDepth
  all individuals: 5
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2672
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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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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
  all individuals: 1
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  variant carriers: 0
hgvs: p.His129His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

16-72188140-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188140
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188140
    reference: chr 16
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-52G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.384G>C
  hgvsp: ENST00000535461.1:c.384G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.384G>C
  hgvsp: ENST00000237353.10:c.384G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*194G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.384G>C
  hgvsp: ENST00000537465.1:c.384G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 9.75e1
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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: 1943
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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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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8346
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu128Leu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-72188140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188140
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188140
    reference: chr 16
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.384G>A
  hgvsp: ENST00000237353.10:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*194G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.384G>A
  hgvsp: ENST00000535461.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.384G>A
  hgvsp: ENST00000537465.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-52G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu128Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

16-72188143-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188143
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188143
    reference: chr 16
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.381T>C
  hgvsp: ENST00000237353.10:c.381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.381T>C
  hgvsp: ENST00000535461.1:c.381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.381T>C
  hgvsp: ENST00000537465.1:c.381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-55T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*191T>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu127Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

16-72188145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188145
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188145
    reference: chr 16
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.379C>T
  hgvsp: ENSP00000237353.10:p.Leu127Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*189C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.379C>T
  hgvsp: ENSP00000443817.1:p.Leu127Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.379C>T
  hgvsp: ENSP00000444953.1:p.Leu127Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-57C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu127Phe
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

16-72188147-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188147
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188147
    reference: chr 16
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.377T>C
  hgvsp: ENSP00000443817.1:p.Val126Ala
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.377T>C
  hgvsp: ENSP00000237353.10:p.Val126Ala
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.377T>C
  hgvsp: ENSP00000444953.1:p.Val126Ala
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*187T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-59T>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40660
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val126Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-72188151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188151
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188151
    reference: chr 16
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-63C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*183C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.373C>T
  hgvsp: ENST00000237353.10:c.373C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.373C>T
  hgvsp: ENST00000537465.1:c.373C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.373C>T
  hgvsp: ENST00000535461.1:c.373C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40659
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu125Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

16-72188151-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188151
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188151
    reference: chr 16
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.373C>A
  hgvsp: ENSP00000443817.1:p.Leu125Met
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*183C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.373C>A
  hgvsp: ENSP00000237353.10:p.Leu125Met
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.373C>A
  hgvsp: ENSP00000444953.1:p.Leu125Met
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-63C>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40659
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu125Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-72188154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188154
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188154
    reference: chr 16
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-66G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.370G>A
  hgvsp: ENSP00000444953.1:p.Asp124Asn
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.370G>A
  hgvsp: ENSP00000443817.1:p.Asp124Asn
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*180G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.370G>A
  hgvsp: ENSP00000237353.10:p.Asp124Asn
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp124Asn
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

16-72188155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188155
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188155
    reference: chr 16
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.369C>T
  hgvsp: ENST00000237353.10:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.369C>T
  hgvsp: ENST00000535461.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.369C>T
  hgvsp: ENST00000537465.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*179C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-67C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40660
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser123Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS

16-72188163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188163
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188163
    reference: chr 16
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.361C>T
  hgvsp: ENSP00000444953.1:p.Gln121Ter
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.361C>T
  hgvsp: ENSP00000237353.10:p.Gln121Ter
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*171C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-75C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.361C>T
  hgvsp: ENSP00000443817.1:p.Gln121Ter
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln121Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

16-72188165-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188165
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188165
    reference: chr 16
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.359A>G
  hgvsp: ENSP00000237353.10:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.359A>G
  hgvsp: ENSP00000443817.1:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.359A>G
  hgvsp: ENSP00000444953.1:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*169A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-77A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40659
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys120Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

16-72188173-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188173
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188173
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.351C>G
  hgvsp: ENSP00000444953.1:p.Ile117Met
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*161C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-85C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.351C>G
  hgvsp: ENSP00000443817.1:p.Ile117Met
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.351C>G
  hgvsp: ENSP00000237353.10:p.Ile117Met
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40660
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8367
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile117Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-72188179-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188179
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188179
    reference: chr 16
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.345G>T
  hgvsp: ENSP00000443817.1:p.Gln115His
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*155G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.345G>T
  hgvsp: ENSP00000444953.1:p.Gln115His
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.345G>T
  hgvsp: ENSP00000237353.10:p.Gln115His
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-91G>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40660
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8370
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln115His
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

16-72188188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188188
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188188
    reference: chr 16
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-100C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.336C>T
  hgvsp: ENST00000535461.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.336C>T
  hgvsp: ENST00000537465.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*146C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.336C>T
  hgvsp: ENST00000237353.10:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40659
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg112Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-72188189-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188189
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188189
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*145G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.335G>T
  hgvsp: ENSP00000443817.1:p.Arg112Leu
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.335G>T
  hgvsp: ENSP00000237353.10:p.Arg112Leu
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.335G>T
  hgvsp: ENSP00000444953.1:p.Arg112Leu
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-101G>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40659
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg112Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-72188189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188189
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188189
    reference: chr 16
allele count: 6
allele frequency: 4.942013705851344e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.335G>A
  hgvsp: ENSP00000444953.1:p.Arg112His
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-101G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*145G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.335G>A
  hgvsp: ENSP00000443817.1:p.Arg112His
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.335G>A
  hgvsp: ENSP00000237353.10:p.Arg112His
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg112His
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

16-72188190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188190
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188190
    reference: chr 16
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.334C>T
  hgvsp: ENSP00000443817.1:p.Arg112Cys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*144C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-102C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.334C>T
  hgvsp: ENSP00000237353.10:p.Arg112Cys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.334C>T
  hgvsp: ENSP00000444953.1:p.Arg112Cys
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg112Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

16-72188190-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188190
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188190
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.334C>A
  hgvsp: ENSP00000443817.1:p.Arg112Ser
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*144C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-102C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.334C>A
  hgvsp: ENSP00000444953.1:p.Arg112Ser
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.334C>A
  hgvsp: ENSP00000237353.10:p.Arg112Ser
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40658
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg112Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

16-72188193-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188193
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188193
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-105C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.331C>G
  hgvsp: ENST00000539172.1:c.331C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.331C>G
  hgvsp: ENSP00000444953.1:p.Leu111Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.331C>G
  hgvsp: ENSP00000237353.10:p.Leu111Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*141C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.331C>G
  hgvsp: ENSP00000443817.1:p.Leu111Val
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40657
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu111Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

16-72188197-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188197
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188197
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.327T>A
  hgvsp: ENSP00000440941.1:p.Tyr109Ter
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.327T>A
  hgvsp: ENSP00000444953.1:p.Tyr109Ter
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-109T>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.327T>A
  hgvsp: ENSP00000237353.10:p.Tyr109Ter
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*137T>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.327T>A
  hgvsp: ENSP00000443817.1:p.Tyr109Ter
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40657
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr109Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

16-72188204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188204
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188204
    reference: chr 16
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.320C>T
  hgvsp: ENSP00000443817.1:p.Ser107Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.320C>T
  hgvsp: ENSP00000440941.1:p.Ser107Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.320C>T
  hgvsp: ENSP00000237353.10:p.Ser107Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-116C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.320C>T
  hgvsp: ENSP00000444953.1:p.Ser107Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*130C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser107Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

16-72188208-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188208
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188208
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-120A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.316A>G
  hgvsp: ENSP00000444953.1:p.Thr106Ala
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.316A>G
  hgvsp: ENSP00000237353.10:p.Thr106Ala
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.316A>G
  hgvsp: ENSP00000443817.1:p.Thr106Ala
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.316A>G
  hgvsp: ENSP00000440941.1:p.Thr106Ala
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.542A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*126A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr106Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

16-72188209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188209
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188209
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.315G>A
  hgvsp: ENST00000539172.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.315G>A
  hgvsp: ENST00000237353.10:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.315G>A
  hgvsp: ENST00000535461.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*125G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.315G>A
  hgvsp: ENST00000537465.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-121G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.541G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln105Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

16-72188214-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188214
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188214
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.310T>C
  hgvsp: ENST00000539172.1:c.310T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.310T>C
  hgvsp: ENST00000537465.1:c.310T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.310T>C
  hgvsp: ENST00000535461.1:c.310T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.310T>C
  hgvsp: ENST00000237353.10:c.310T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*120T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-126T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.536T>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu104Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-72188220-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188220
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188220
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.304G>T
  hgvsp: ENSP00000440941.1:p.Glu102Ter
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.304G>T
  hgvsp: ENSP00000444953.1:p.Glu102Ter
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.304G>T
  hgvsp: ENSP00000443817.1:p.Glu102Ter
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.304G>T
  hgvsp: ENSP00000237353.10:p.Glu102Ter
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*114G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-132G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.530G>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu102Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

16-72188223-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188223
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188223
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-135A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.527A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.301A>G
  hgvsp: ENSP00000440941.1:p.Thr101Ala
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*111A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.301A>G
  hgvsp: ENSP00000443817.1:p.Thr101Ala
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.301A>G
  hgvsp: ENSP00000444953.1:p.Thr101Ala
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.301A>G
  hgvsp: ENSP00000237353.10:p.Thr101Ala
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40655
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr101Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

16-72188238-CTTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188238
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188235
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.283_285delCAA
  hgvsp: ENSP00000443817.1:p.Gln95del
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.283_285delCAA
  hgvsp: ENSP00000444953.1:p.Gln95del
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.283_285delCAA
  hgvsp: ENSP00000237353.10:p.Gln95del
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.283_285delCAA
  hgvsp: ENSP00000440941.1:p.Gln95del
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.509_511delCAA
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*93_*95delCAA
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-153_-151delCAA
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln95del
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: CTTG
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-72188239-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188239
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188239
    reference: chr 16
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.511A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.285A>G
  hgvsp: ENST00000237353.10:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.285A>G
  hgvsp: ENST00000539172.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.285A>G
  hgvsp: ENST00000535461.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.285A>G
  hgvsp: ENST00000537465.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*95A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-151A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40654
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln95Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

16-72188247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188247
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188247
    reference: chr 16
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*87C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.277C>T
  hgvsp: ENSP00000440941.1:p.Leu93Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.503C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.277C>T
  hgvsp: ENSP00000237353.10:p.Leu93Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-159C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.277C>T
  hgvsp: ENSP00000443817.1:p.Leu93Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.277C>T
  hgvsp: ENSP00000444953.1:p.Leu93Phe
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu93Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

16-72188253-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188253
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188253
    reference: chr 16
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.497C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.271C>A
  hgvsp: ENSP00000443817.1:p.Leu91Met
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.271C>A
  hgvsp: ENSP00000444953.1:p.Leu91Met
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.271C>A
  hgvsp: ENSP00000237353.10:p.Leu91Met
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.271C>A
  hgvsp: ENSP00000440941.1:p.Leu91Met
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*81C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-165C>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu91Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/16-72188254-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188254
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188254
    reference: chr 16
allele count: 7
allele frequency: 5.765777638666952e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.270G>T
  hgvsp: ENSP00000443817.1:p.Leu90Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*80G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.270G>T
  hgvsp: ENSP00000440941.1:p.Leu90Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.270G>T
  hgvsp: ENSP00000444953.1:p.Leu90Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.270G>T
  hgvsp: ENSP00000237353.10:p.Leu90Phe
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-166G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.496G>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu90Phe
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

16-72188271-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188271
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188271
    reference: chr 16
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.253C>A
  hgvsp: ENSP00000443817.1:p.Gln85Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-183C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.253C>A
  hgvsp: ENSP00000237353.10:p.Gln85Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.253C>A
  hgvsp: ENSP00000444953.1:p.Gln85Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.253C>A
  hgvsp: ENSP00000440941.1:p.Gln85Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.479C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*63C>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln85Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

16-72188273-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188273
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188273
    reference: chr 16
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.251A>C
  hgvsp: ENSP00000440941.1:p.Gln84Pro
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-185A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*61A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.251A>C
  hgvsp: ENSP00000237353.10:p.Gln84Pro
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.251A>C
  hgvsp: ENSP00000444953.1:p.Gln84Pro
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.477A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.251A>C
  hgvsp: ENSP00000443817.1:p.Gln84Pro
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln84Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

16-72188278-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188278
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188278
    reference: chr 16
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.246A>G
  hgvsp: ENST00000539172.1:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.246A>G
  hgvsp: ENST00000537465.1:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.472A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*56A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.246A>G
  hgvsp: ENST00000535461.1:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.246A>G
  hgvsp: ENST00000237353.10:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-190A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40647
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln82Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-72188280-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188280
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188280
    reference: chr 16
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.244C>A
  hgvsp: ENSP00000443817.1:p.Gln82Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.244C>A
  hgvsp: ENSP00000237353.10:p.Gln82Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*54C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.244C>A
  hgvsp: ENSP00000440941.1:p.Gln82Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-192C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.470C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.244C>A
  hgvsp: ENSP00000444953.1:p.Gln82Lys
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln82Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/16-72188290-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188290
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188290
    reference: chr 16
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.460T>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.234T>G
  hgvsp: ENSP00000444953.1:p.Cys78Trp
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-202T>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.234T>G
  hgvsp: ENSP00000443817.1:p.Cys78Trp
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*44T>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.234T>G
  hgvsp: ENSP00000237353.10:p.Cys78Trp
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.234T>G
  hgvsp: ENSP00000440941.1:p.Cys78Trp
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys78Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/16-72188292-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188292
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188292
    reference: chr 16
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.232T>G
  hgvsp: ENSP00000444953.1:p.Cys78Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*42T>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-204T>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.232T>G
  hgvsp: ENSP00000237353.10:p.Cys78Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.232T>G
  hgvsp: ENSP00000440941.1:p.Cys78Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.458T>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.232T>G
  hgvsp: ENSP00000443817.1:p.Cys78Gly
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys78Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

16-72188292-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188292
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188292
    reference: chr 16
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*42T>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.458T>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.232T>A
  hgvsp: ENSP00000444953.1:p.Cys78Ser
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-204T>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.232T>A
  hgvsp: ENSP00000443817.1:p.Cys78Ser
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.232T>A
  hgvsp: ENSP00000440941.1:p.Cys78Ser
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.232T>A
  hgvsp: ENSP00000237353.10:p.Cys78Ser
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys78Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

16-72188293-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188293
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188293
    reference: chr 16
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.231G>C
  hgvsp: ENSP00000444953.1:p.Gln77His
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.457G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.231G>C
  hgvsp: ENSP00000237353.10:p.Gln77His
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-205G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*41G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.231G>C
  hgvsp: ENSP00000440941.1:p.Gln77His
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.231G>C
  hgvsp: ENSP00000443817.1:p.Gln77His
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln77His
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

16-72188294-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188294
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188294
    reference: chr 16
allele count: 45
allele frequency: 3.706815598280038e-4
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.230A>G
  hgvsp: ENSP00000444953.1:p.Gln77Arg
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.230A>G
  hgvsp: ENSP00000443817.1:p.Gln77Arg
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.230A>G
  hgvsp: ENSP00000237353.10:p.Gln77Arg
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.230A>G
  hgvsp: ENSP00000440941.1:p.Gln77Arg
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*40A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-206A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.456A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 9.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 8381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40645
  bin: 9.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln77Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

16-72188297-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188297
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188297
    reference: chr 16
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*37A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.227A>G
  hgvsp: ENSP00000443817.1:p.Lys76Arg
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.227A>G
  hgvsp: ENSP00000444953.1:p.Lys76Arg
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.453A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.227A>G
  hgvsp: ENSP00000440941.1:p.Lys76Arg
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.227A>G
  hgvsp: ENSP00000237353.10:p.Lys76Arg
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-209A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys76Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

16-72188311-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188311
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188311
    reference: chr 16
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.213A>G
  hgvsp: ENST00000539172.1:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.439A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-223A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*23A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.213A>G
  hgvsp: ENST00000237353.10:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.213A>G
  hgvsp: ENST00000537465.1:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.213A>G
  hgvsp: ENST00000535461.1:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40632
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu71Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-72188318-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188318
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188318
    reference: chr 16
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.206A>T
  hgvsp: ENSP00000440941.1:p.Glu69Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.206A>T
  hgvsp: ENSP00000443817.1:p.Glu69Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.206A>T
  hgvsp: ENSP00000237353.10:p.Glu69Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*16A>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.206A>T
  hgvsp: ENSP00000444953.1:p.Glu69Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-230A>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.432A>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu69Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

16-72188318-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188318
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188318
    reference: chr 16
allele count: 11
allele frequency: 9.061254077564335e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.206A>G
  hgvsp: ENSP00000443817.1:p.Glu69Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.432A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-230A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*16A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.206A>G
  hgvsp: ENSP00000237353.10:p.Glu69Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.206A>G
  hgvsp: ENSP00000444953.1:p.Glu69Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.206A>G
  hgvsp: ENSP00000440941.1:p.Glu69Gly
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu69Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-72188326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188326
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188326
    reference: chr 16
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*8G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-238G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.424G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.198G>A
  hgvsp: ENST00000537465.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.198G>A
  hgvsp: ENST00000539172.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.198G>A
  hgvsp: ENST00000536211.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.198G>A
  hgvsp: ENST00000535461.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.198G>A
  hgvsp: ENST00000237353.10:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8363
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu66Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-72188327-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188327
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188327
    reference: chr 16
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.197A>G
  hgvsp: ENSP00000440941.1:p.Glu66Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.197A>G
  hgvsp: ENSP00000444953.1:p.Glu66Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.197A>G
  hgvsp: ENSP00000439841.1:p.Glu66Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.423A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*7A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.197A>G
  hgvsp: ENSP00000237353.10:p.Glu66Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.197A>G
  hgvsp: ENSP00000443817.1:p.Glu66Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-239A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu66Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-66717870-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66717870
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 66717870
    reference: chr 12
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000536862
  gene symbol: HELB
  hgvsc: ENST00000536862.1:n.152A>G
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000545455
  gene symbol: HELB
  hgvsc: ENST00000545455.1:n.796A>G
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000443287
  ensembl transcript: ENST00000545134
  gene symbol: HELB
  hgvsc: ENST00000545134.1:c.2405A>G
  hgvsp: ENSP00000443287.1:p.Asn802Ser
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000439617
  ensembl transcript: ENST00000542394
  gene symbol: HELB
  hgvsc: ENST00000542394.1:c.2405A>G
  hgvsp: ENSP00000439617.1:p.Asn802Ser
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000247815
  ensembl transcript: ENST00000247815
  gene symbol: HELB
  hgvsc: ENST00000247815.4:c.2405A>G
  hgvsp: ENSP00000247815.4:p.Asn802Ser
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000396955
  ensembl transcript: ENST00000440906
  gene symbol: HELB
  hgvsc: ENST00000440906.2:c.*502A>G
  variant of: http://identifiers.org/hgnc/17196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7037
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn802Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-66717875-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66717875
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 66717875
    reference: chr 12
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000536862
  gene symbol: HELB
  hgvsc: ENST00000536862.1:n.157G>A
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000439617
  ensembl transcript: ENST00000542394
  gene symbol: HELB
  hgvsc: ENST00000542394.1:c.2410G>A
  hgvsp: ENSP00000439617.1:p.Asp804Asn
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000396955
  ensembl transcript: ENST00000440906
  gene symbol: HELB
  hgvsc: ENST00000440906.2:c.*507G>A
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000545455
  gene symbol: HELB
  hgvsc: ENST00000545455.1:n.801G>A
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000247815
  ensembl transcript: ENST00000247815
  gene symbol: HELB
  hgvsc: ENST00000247815.4:c.2410G>A
  hgvsp: ENSP00000247815.4:p.Asp804Asn
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000443287
  ensembl transcript: ENST00000545134
  gene symbol: HELB
  hgvsc: ENST00000545134.1:c.2410G>A
  hgvsp: ENSP00000443287.1:p.Asp804Asn
  variant of: http://identifiers.org/hgnc/17196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7036
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp804Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-66717890-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66717890
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 66717890
    reference: chr 12
allele count: 4
allele frequency: 3.295870274545994e-5
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000443287
  ensembl transcript: ENST00000545134
  gene symbol: HELB
  hgvsc: ENST00000545134.1:c.2425A>C
  hgvsp: ENSP00000443287.1:p.Ser809Arg
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000536862
  gene symbol: HELB
  hgvsc: ENST00000536862.1:n.172A>C
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000247815
  ensembl transcript: ENST00000247815
  gene symbol: HELB
  hgvsc: ENST00000247815.4:c.2425A>C
  hgvsp: ENSP00000247815.4:p.Ser809Arg
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000439617
  ensembl transcript: ENST00000542394
  gene symbol: HELB
  hgvsc: ENST00000542394.1:c.2425A>C
  hgvsp: ENSP00000439617.1:p.Ser809Arg
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000396955
  ensembl transcript: ENST00000440906
  gene symbol: HELB
  hgvsc: ENST00000440906.2:c.*522A>C
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000545455
  gene symbol: HELB
  hgvsc: ENST00000545455.1:n.816A>C
  variant of: http://identifiers.org/hgnc/17196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser809Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-66717895-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66717895
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 66717895
    reference: chr 12
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000247815
  ensembl transcript: ENST00000247815
  gene symbol: HELB
  hgvsc: ENST00000247815.4:c.2430A>C
  hgvsp: ENSP00000247815.4:p.Glu810Asp
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000545455
  gene symbol: HELB
  hgvsc: ENST00000545455.1:n.821A>C
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000439617
  ensembl transcript: ENST00000542394
  gene symbol: HELB
  hgvsc: ENST00000542394.1:c.2430A>C
  hgvsp: ENSP00000439617.1:p.Glu810Asp
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000536862
  gene symbol: HELB
  hgvsc: ENST00000536862.1:n.177A>C
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000443287
  ensembl transcript: ENST00000545134
  gene symbol: HELB
  hgvsc: ENST00000545134.1:c.2430A>C
  hgvsp: ENSP00000443287.1:p.Glu810Asp
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000396955
  ensembl transcript: ENST00000440906
  gene symbol: HELB
  hgvsc: ENST00000440906.2:c.*527A>C
  variant of: http://identifiers.org/hgnc/17196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7031
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8683
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu810Asp
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-66717909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66717909
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 66717909
    reference: chr 12
allele count: 5
allele frequency: 4.119973632168754e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000443287
  ensembl transcript: ENST00000545134
  gene symbol: HELB
  hgvsc: ENST00000545134.1:c.2444C>T
  hgvsp: ENSP00000443287.1:p.Thr815Met
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000439617
  ensembl transcript: ENST00000542394
  gene symbol: HELB
  hgvsc: ENST00000542394.1:c.2444C>T
  hgvsp: ENSP00000439617.1:p.Thr815Met
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000247815
  ensembl transcript: ENST00000247815
  gene symbol: HELB
  hgvsc: ENST00000247815.4:c.2444C>T
  hgvsp: ENSP00000247815.4:p.Thr815Met
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000396955
  ensembl transcript: ENST00000440906
  gene symbol: HELB
  hgvsc: ENST00000440906.2:c.*541C>T
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000536862
  gene symbol: HELB
  hgvsc: ENST00000536862.1:n.191C>T
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000545455
  gene symbol: HELB
  hgvsc: ENST00000545455.1:n.835C>T
  variant of: http://identifiers.org/hgnc/17196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr815Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-66717910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66717910
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 66717910
    reference: chr 12
allele count: 6
allele frequency: 4.944212798918866e-5
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000536862
  gene symbol: HELB
  hgvsc: ENST00000536862.1:n.192G>A
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000545455
  gene symbol: HELB
  hgvsc: ENST00000545455.1:n.836G>A
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000443287
  ensembl transcript: ENST00000545134
  gene symbol: HELB
  hgvsc: ENST00000545134.1:c.2445G>A
  hgvsp: ENST00000545134.1:c.2445G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000247815
  ensembl transcript: ENST00000247815
  gene symbol: HELB
  hgvsc: ENST00000247815.4:c.2445G>A
  hgvsp: ENST00000247815.4:c.2445G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000396955
  ensembl transcript: ENST00000440906
  gene symbol: HELB
  hgvsc: ENST00000440906.2:c.*542G>A
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000439617
  ensembl transcript: ENST00000542394
  gene symbol: HELB
  hgvsc: ENST00000542394.1:c.2445G>A
  hgvsp: ENST00000542394.1:c.2445G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7287
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr815Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

12-66717910-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66717910
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 66717910
    reference: chr 12
allele count: 6182
allele frequency: 5.094187253819404e-2
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000439617
  ensembl transcript: ENST00000542394
  gene symbol: HELB
  hgvsc: ENST00000542394.1:c.2445G>T
  hgvsp: ENST00000542394.1:c.2445G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000545455
  gene symbol: HELB
  hgvsc: ENST00000545455.1:n.836G>T
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000247815
  ensembl transcript: ENST00000247815
  gene symbol: HELB
  hgvsc: ENST00000247815.4:c.2445G>T
  hgvsp: ENST00000247815.4:c.2445G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000396955
  ensembl transcript: ENST00000440906
  gene symbol: HELB
  hgvsc: ENST00000440906.2:c.*542G>T
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000536862
  gene symbol: HELB
  hgvsc: ENST00000536862.1:n.192G>T
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000443287
  ensembl transcript: ENST00000545134
  gene symbol: HELB
  hgvsc: ENST00000545134.1:c.2445G>T
  hgvsp: ENST00000545134.1:c.2445G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 10356
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 290
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 13719
  bin: 3.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 383
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 375
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 26229
  bin: 2.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.25e1
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 9.75e1
  variant carriers: 2562
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Thr815Thr
num of homozygotes: 467
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

12-66717913-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66717913
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 66717913
    reference: chr 12
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000396955
  ensembl transcript: ENST00000440906
  gene symbol: HELB
  hgvsc: ENST00000440906.2:c.*545T>C
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000247815
  ensembl transcript: ENST00000247815
  gene symbol: HELB
  hgvsc: ENST00000247815.4:c.2448T>C
  hgvsp: ENST00000247815.4:c.2448T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000545455
  gene symbol: HELB
  hgvsc: ENST00000545455.1:n.839T>C
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000443287
  ensembl transcript: ENST00000545134
  gene symbol: HELB
  hgvsc: ENST00000545134.1:c.2448T>C
  hgvsp: ENST00000545134.1:c.2448T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000439617
  ensembl transcript: ENST00000542394
  gene symbol: HELB
  hgvsc: ENST00000542394.1:c.2448T>C
  hgvsp: ENST00000542394.1:c.2448T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000536862
  gene symbol: HELB
  hgvsc: ENST00000536862.1:n.195T>C
  variant of: http://identifiers.org/hgnc/17196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu816Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-66717917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66717917
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 66717917
    reference: chr 12
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000545455
  gene symbol: HELB
  hgvsc: ENST00000545455.1:n.843G>A
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000443287
  ensembl transcript: ENST00000545134
  gene symbol: HELB
  hgvsc: ENST00000545134.1:c.2452G>A
  hgvsp: ENSP00000443287.1:p.Asp818Asn
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000247815
  ensembl transcript: ENST00000247815
  gene symbol: HELB
  hgvsc: ENST00000247815.4:c.2452G>A
  hgvsp: ENSP00000247815.4:p.Asp818Asn
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000536862
  gene symbol: HELB
  hgvsc: ENST00000536862.1:n.199G>A
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000396955
  ensembl transcript: ENST00000440906
  gene symbol: HELB
  hgvsc: ENST00000440906.2:c.*549G>A
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000439617
  ensembl transcript: ENST00000542394
  gene symbol: HELB
  hgvsc: ENST00000542394.1:c.2452G>A
  hgvsp: ENSP00000439617.1:p.Asp818Asn
  variant of: http://identifiers.org/hgnc/17196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp818Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

16-72188328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188328
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188328
    reference: chr 16
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.196G>A
  hgvsp: ENSP00000443817.1:p.Glu66Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.196G>A
  hgvsp: ENSP00000444953.1:p.Glu66Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*6G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.422G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.196G>A
  hgvsp: ENSP00000439841.1:p.Glu66Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.196G>A
  hgvsp: ENSP00000237353.10:p.Glu66Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.196G>A
  hgvsp: ENSP00000440941.1:p.Glu66Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-240G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu66Lys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

12-66717918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66717918
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 66717918
    reference: chr 12
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000439617
  ensembl transcript: ENST00000542394
  gene symbol: HELB
  hgvsc: ENST00000542394.1:c.2453A>G
  hgvsp: ENSP00000439617.1:p.Asp818Gly
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000536862
  gene symbol: HELB
  hgvsc: ENST00000536862.1:n.200A>G
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000443287
  ensembl transcript: ENST00000545134
  gene symbol: HELB
  hgvsc: ENST00000545134.1:c.2453A>G
  hgvsp: ENSP00000443287.1:p.Asp818Gly
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000396955
  ensembl transcript: ENST00000440906
  gene symbol: HELB
  hgvsc: ENST00000440906.2:c.*550A>G
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000247815
  ensembl transcript: ENST00000247815
  gene symbol: HELB
  hgvsc: ENST00000247815.4:c.2453A>G
  hgvsp: ENSP00000247815.4:p.Asp818Gly
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000545455
  gene symbol: HELB
  hgvsc: ENST00000545455.1:n.844A>G
  variant of: http://identifiers.org/hgnc/17196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp818Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

12-66717924-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66717924
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 66717924
    reference: chr 12
allele count: 9
allele frequency: 7.417663930372861e-5
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000396955
  ensembl transcript: ENST00000440906
  gene symbol: HELB
  hgvsc: ENST00000440906.2:c.*556C>G
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000439617
  ensembl transcript: ENST00000542394
  gene symbol: HELB
  hgvsc: ENST00000542394.1:c.2459C>G
  hgvsp: ENSP00000439617.1:p.Ala820Gly
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000545455
  gene symbol: HELB
  hgvsc: ENST00000545455.1:n.850C>G
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000443287
  ensembl transcript: ENST00000545134
  gene symbol: HELB
  hgvsc: ENST00000545134.1:c.2459C>G
  hgvsp: ENSP00000443287.1:p.Ala820Gly
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127311
  ensembl transcript: ENST00000536862
  gene symbol: HELB
  hgvsc: ENST00000536862.1:n.206C>G
  variant of: http://identifiers.org/hgnc/17196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127311
  ensembl protein: ENSP00000247815
  ensembl transcript: ENST00000247815
  gene symbol: HELB
  hgvsc: ENST00000247815.4:c.2459C>G
  hgvsp: ENSP00000247815.4:p.Ala820Gly
  variant of: http://identifiers.org/hgnc/17196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala820Gly
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 4997
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7680
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3673
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510984859931704e-5
allele num: 66182
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 2.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 2.089e1

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.208e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

DP
type: SiteQuality
SIO_000300: 2.266103e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

GenotypeQuality
all individuals: 5670
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512584704743466e-5
allele num: 66112
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.319e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.256328e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.828e0

MQRankSum
type: SiteQuality
SIO_000300: -8.79e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

GenotypeQuality
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bin: 6.25e1
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
all individuals: 2317
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.543389368468878e-5
allele num: 66030
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.487358326068004e-4
allele num: 11470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.216073e6

FS
type: SiteQuality
SIO_000300: 6.086e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66000
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.185677021579322e-4
allele num: 8434
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.212129e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.265e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

VQSLOD
type: SiteQuality
SIO_000300: -7.82e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeQuality
all individuals: 25
bin: 2.5e0
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: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65954
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.20087e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.083e0

FS
type: SiteQuality
SIO_000300: 5.996e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.024e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1239
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1767
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.738203425375742e-5
allele num: 11444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.359e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

DP
type: SiteQuality
SIO_000300: 2.194559e6

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.944e0

GenotypeQuality
all individuals: 782
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
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variant carriers: 0

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 2194
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GenotypeQuality
all individuals: 2725
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15922
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.355054352735704e-4
allele num: 66418
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 8.042999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.09e0

DP
type: SiteQuality
SIO_000300: 3.335567e6

QD
type: SiteQuality
SIO_000300: 1.139e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2086
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.213495712687958e-5
allele num: 16094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 5.169e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.008e0

VQSLOD
type: SiteQuality
SIO_000300: -3.995e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 3.351669e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
SIO_000300: 8.83e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-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
all individuals: 2205
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16114
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 22
allele frequency: 2.551612154952447e-3
allele num: 8622
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

DP
type: SiteQuality
SIO_000300: 3.35336e6

FS
type: SiteQuality
SIO_000300: 1.992e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.555e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1086
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variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002822653294096e-5
allele num: 66604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

DP
type: SiteQuality
SIO_000300: 3.362266e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.38e-1

FS
type: SiteQuality
SIO_000300: 4.378e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.205e1

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1085
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2

QD
type: SiteQuality
SIO_000300: 1.321e1

VQSLOD
type: SiteQuality
SIO_000300: -3.271e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.327e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 3.362693e6

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.11e-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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bin: 9.25e1
variant carriers: 0

Latino
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allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

African
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allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
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VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.368e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.86e0

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.676e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
all individuals: 2219
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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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variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16510
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
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allele num: 11578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
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VQSLOD
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MQ
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SIO_000300: 5.897e1

ReadPosRankSum
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SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

DP
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
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Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.257e0

ReadPosRankSum
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
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VQSLOD
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DP
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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African
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allele num: 10406
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East Asian
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allele num: 8652
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
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MQRankSum
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 1.745e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-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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variant carriers: 3

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

South Asian
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allele frequency: 1.816860465116279e-4
allele num: 16512
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: -8.59e-1

FS
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SIO_000300: 1.104e0

ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 3.370465e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.393e1

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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variant carriers: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

MQRankSum
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ClippingRankSum
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SIO_000300: 1.84e-1

DP
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MQ
type: SiteQuality
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InbreedingCoeff
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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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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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Other
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East Asian
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African
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allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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allele num: 6614
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Other
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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FS
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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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variant carriers: 0

East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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allele num: 66740
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Other
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South Asian
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Latino
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DP
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FS
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MQ
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 66740
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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FS
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

QD
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 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 count: 45
allele frequency: 5.207127979634344e-3
allele num: 8642
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

QD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

BaseQRankSum
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SIO_000300: -3.038e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

BaseQRankSum
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SIO_000300: 3.94e0

FS
type: SiteQuality
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QD
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ClippingRankSum
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MQRankSum
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SIO_000300: 1.78e-1

VQSLOD
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InbreedingCoeff
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SIO_000300: 0.0e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.46e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
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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: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.916e0

DP
type: SiteQuality
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VQSLOD
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SIO_000300: -7.135e-1

MQRankSum
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MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

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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variant carriers: 0

South Asian
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allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
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SIO_000300: 1.347e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

East Asian
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allele count: 11
allele frequency: 1.272559000462749e-3
allele num: 8644
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66734
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 0
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allele num: 16504
num of homozygotes: 0

InbreedingCoeff
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QD
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.363491e6

FS
type: SiteQuality
SIO_000300: 3.285e0

MQRankSum
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ClippingRankSum
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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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Latino
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num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
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allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

African
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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 count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.075867e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.686e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

QD
type: SiteQuality
SIO_000300: 1.365e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.543e0

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8685
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.336e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 2.075845e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 40449
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.413e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.78e-1

DP
type: SiteQuality
SIO_000300: 2.075589e6

GenotypeQuality
all individuals: 40430
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7031
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1462
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494454103963068e-5
allele num: 66716
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.69e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

DP
type: SiteQuality
SIO_000300: 2.075607e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40388
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.099e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

DP
type: SiteQuality
SIO_000300: 2.148236e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.467e1

GenotypeQuality
all individuals: 7287
bin: 9.75e1
variant carriers: 5703

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8649
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40388
bin: 6.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 48
allele frequency: 7.25733293014817e-3
allele num: 6614
num of homozygotes: 1

Other
type: Population
allele count: 26
allele frequency: 2.863436123348018e-2
allele num: 908
num of homozygotes: 1

South Asian
type: Population
allele count: 1136
allele frequency: 6.880678376741368e-2
allele num: 16510
num of homozygotes: 46

European (Non-Finnish)
type: Population
allele count: 772
allele frequency: 1.157178403333633e-2
allele num: 66714
num of homozygotes: 9

East Asian
type: Population
allele count: 1141
allele frequency: 1.319380203515264e-1
allele num: 8648
num of homozygotes: 81

Latino
type: Population
allele count: 579
allele frequency: 5.001727712508638e-2
allele num: 11576
num of homozygotes: 8

African
type: Population
allele count: 2480
allele frequency: 2.38828967642527e-1
allele num: 10384
num of homozygotes: 321

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.099e-1

DP
type: SiteQuality
SIO_000300: 2.148236e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

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

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
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variant carriers: 1

GenotypeQuality
all individuals: 859
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.876993e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.042e1

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1901
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variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9806
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.25e1
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GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.876825e6

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.216e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.424e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 2120
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variant carriers: 0

GenotypeQuality
all individuals: 1304
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.712e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 3.363507e6

QD
type: SiteQuality
SIO_000300: 1.246e1

MQ
type: SiteQuality
SIO_000300: 5.797e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.288e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 9806
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GenotypeQuality
all individuals: 1767
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 43556
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.367e1

DP
type: SiteQuality
SIO_000300: 1.876737e6