22-39102161-GGGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39102161
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39102158
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-52+351_-52+353delCGG
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+21_192+23delCGG
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.192+21_192+23delCGG
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.30+21_30+23delCGG
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10090
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9033
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: GGGC
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

22-39102203-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39102203
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39102203
    reference: chr 22
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.30+51A>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.192+51A>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+51A>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-52+381A>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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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
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  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

22-39104799-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104799
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104799
    reference: chr 22
allele count: 1
allele frequency: 8.403220113947665e-6
allele num: 119002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-51G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-51G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-51G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-51G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-51G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2647G>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 807
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

22-39104802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104802
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104802
    reference: chr 22
allele count: 55
allele frequency: 4.617813003761418e-4
allele num: 119104
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-48G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-48G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-48G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-48G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-48G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2650G>A
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16048
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  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 139
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 10
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 296
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8840
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genotype depth: GenotypeDepth
  all individuals: 1231
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

22-39104802-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104802
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104802
    reference: chr 22
allele count: 2
allele frequency: 1.679204728640516e-5
allele num: 119104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-48G>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-48G>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2650G>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-48G>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-48G>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-48G>C
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16048
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

22-39104804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104804
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104804
    reference: chr 22
allele count: 1
allele frequency: 8.396587626788473e-6
allele num: 119096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-46G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-46G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-46G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-46G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2652G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-46G>A
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

22-39104805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104805
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104805
    reference: chr 22
allele count: 1
allele frequency: 8.395177809866013e-6
allele num: 119116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-45C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-45C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-45C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-45C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2653C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-45C>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

22-39104807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104807
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104807
    reference: chr 22
allele count: 5
allele frequency: 4.192801797873411e-5
allele num: 119252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-43C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2655C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-43C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-43C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-43C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-43C>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17882
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16479
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

22-39104811-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104811
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104811
    reference: chr 22
allele count: 1
allele frequency: 8.377735330585436e-6
allele num: 119364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-39T>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-39T>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-39T>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-39T>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-39T>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2659T>A
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

22-39104811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104811
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104811
    reference: chr 22
allele count: 1
allele frequency: 8.377735330585436e-6
allele num: 119364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-39T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-39T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-39T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2659T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-39T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-39T>C
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20203
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

22-39104813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104813
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104813
    reference: chr 22
allele count: 1
allele frequency: 8.375910880308233e-6
allele num: 119390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-37G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-37G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-37G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2661G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-37G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-37G>A
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

22-39104815-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104815
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104815
    reference: chr 22
allele count: 3
allele frequency: 2.506140043105609e-5
allele num: 119706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-35A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-35A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2663A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-35A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-35A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-35A>G
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21970
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9543
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

22-39104821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104821
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104821
    reference: chr 22
allele count: 1
allele frequency: 8.330695279828055e-6
allele num: 120038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-29G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-29G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-29G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-29G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2669G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-29G>A
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18415
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

22-39104824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104824
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104824
    reference: chr 22
allele count: 2
allele frequency: 1.663422991832593e-5
allele num: 120234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-26C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2672C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-26C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-26C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-26C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-26C>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9992
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

22-39104833-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104833
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104833
    reference: chr 22
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-17G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-17G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-17G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2681G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-17G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-17G>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46486
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

22-39104838-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104838
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104838
    reference: chr 22
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2686T>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-12T>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-12T>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-12T>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-12T>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-12T>G
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24044
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

22-39104841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104841
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104841
    reference: chr 22
allele count: 3
allele frequency: 2.478028150399789e-5
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-51-9C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.31-9C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-51-9C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-51-9C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2689C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.193-9C>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

22-39104863-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104863
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104863
    reference: chr 22
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-38G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.44G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2711G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-38G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.206G>T
  hgvsp: ENSP00000216044.5:p.Ser69Ile
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-38G>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser69Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

22-39104866-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104866
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104866
    reference: chr 22
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.47C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.209C>G
  hgvsp: ENSP00000216044.5:p.Pro70Arg
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2714C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-35C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-35C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-35C>G
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro70Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

22-39104867-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104867
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104867
    reference: chr 22
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-34T>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-34T>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-34T>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.48T>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2715T>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.210T>A
  hgvsp: ENST00000216044.5:c.210T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47648
  bin: 6.25e1
  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
hgvs: p.Pro70Pro
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

22-39104868-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104868
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104868
    reference: chr 22
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.49A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.211A>G
  hgvsp: ENSP00000216044.5:p.Thr71Ala
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2716A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr71Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

22-39104870-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104870
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104870
    reference: chr 22
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.51A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.213A>G
  hgvsp: ENST00000216044.5:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-31A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-31A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-31A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2718A>G
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr71Thr
num of homozygotes: 1
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum

22-39104877-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104877
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104877
    reference: chr 22
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-24C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2725C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-24C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.220C>G
  hgvsp: ENSP00000216044.5:p.Gln74Glu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.58C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-24C>G
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  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: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47665
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln74Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

22-39104881-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104881
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104881
    reference: chr 22
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-20A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.62A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-20A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2729A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-20A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.224A>G
  hgvsp: ENSP00000216044.5:p.Tyr75Cys
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr75Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

22-39104895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104895
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104895
    reference: chr 22
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.238C>T
  hgvsp: ENSP00000216044.5:p.Arg80Trp
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2743C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.76C>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47691
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg80Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

22-39104896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104896
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104896
    reference: chr 22
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.-5G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2744G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.77G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.-5G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.-5G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.239G>A
  hgvsp: ENSP00000216044.5:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg80Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ

22-39104904-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104904
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104904
    reference: chr 22
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.4T>C
  hgvsp: ENSP00000442881.1:p.Trp2Arg
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.4T>C
  hgvsp: ENSP00000442628.1:p.Trp2Arg
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.85T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.247T>C
  hgvsp: ENSP00000216044.5:p.Trp83Arg
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2752T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.4T>C
  hgvsp: ENSP00000439505.1:p.Trp2Arg
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  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: 1236
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp83Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-39104912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104912
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104912
    reference: chr 22
allele count: 7
allele frequency: 5.766252594813668e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.12G>A
  hgvsp: ENST00000470836.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.12G>A
  hgvsp: ENST00000488787.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.255G>A
  hgvsp: ENST00000216044.5:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.93G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.12G>A
  hgvsp: ENST00000484657.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2760G>A
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg85Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

22-39104925-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104925
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104925
    reference: chr 22
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.25T>A
  hgvsp: ENSP00000439505.1:p.Cys9Ser
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.106T>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2773T>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.25T>A
  hgvsp: ENSP00000442881.1:p.Cys9Ser
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.25T>A
  hgvsp: ENSP00000442628.1:p.Cys9Ser
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.268T>A
  hgvsp: ENSP00000216044.5:p.Cys90Ser
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7899
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys90Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

22-39104927-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104927
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104927
    reference: chr 22
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.27C>G
  hgvsp: ENSP00000439505.1:p.Cys9Trp
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.27C>G
  hgvsp: ENSP00000442628.1:p.Cys9Trp
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.27C>G
  hgvsp: ENSP00000442881.1:p.Cys9Trp
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.108C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.270C>G
  hgvsp: ENSP00000216044.5:p.Cys90Trp
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2775C>G
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  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
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys90Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

22-39104927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104927
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104927
    reference: chr 22
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2775C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.270C>T
  hgvsp: ENST00000216044.5:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.27C>T
  hgvsp: ENST00000470836.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.27C>T
  hgvsp: ENST00000484657.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.108C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.27C>T
  hgvsp: ENST00000488787.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys90Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-39104928-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104928
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104928
    reference: chr 22
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.28G>C
  hgvsp: ENSP00000442881.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.109G>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.28G>C
  hgvsp: ENSP00000439505.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.271G>C
  hgvsp: ENSP00000216044.5:p.Gly91Arg
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.28G>C
  hgvsp: ENSP00000442628.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2776G>C
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly91Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

22-39104939-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104939
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104939
    reference: chr 22
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.39A>G
  hgvsp: ENSP00000439505.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.120A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.39A>G
  hgvsp: ENSP00000442881.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.282A>G
  hgvsp: ENSP00000216044.5:p.Ile94Met
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2787A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.39A>G
  hgvsp: ENSP00000442628.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  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: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile94Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

22-39104945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104945
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104945
    reference: chr 22
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.126C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.45C>T
  hgvsp: ENST00000484657.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.45C>T
  hgvsp: ENST00000488787.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.45C>T
  hgvsp: ENST00000470836.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2793C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.288C>T
  hgvsp: ENST00000216044.5:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  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
hgvs: p.Val96Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/22-39104946-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104946
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104946
    reference: chr 22
allele count: 6
allele frequency: 4.945109286915241e-5
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.289A>C
  hgvsp: ENSP00000216044.5:p.Ile97Leu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.127A>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.46A>C
  hgvsp: ENSP00000439505.1:p.Ile16Leu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2794A>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.46A>C
  hgvsp: ENSP00000442628.1:p.Ile16Leu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.46A>C
  hgvsp: ENSP00000442881.1:p.Ile16Leu
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20137
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24014
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile97Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

22-39104946-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104946
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104946
    reference: chr 22
allele count: 4
allele frequency: 3.296739524610161e-5
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.46A>G
  hgvsp: ENSP00000442881.1:p.Ile16Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2794A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.46A>G
  hgvsp: ENSP00000439505.1:p.Ile16Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.127A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.46A>G
  hgvsp: ENSP00000442628.1:p.Ile16Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.289A>G
  hgvsp: ENSP00000216044.5:p.Ile97Val
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile97Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

22-39104947-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104947
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104947
    reference: chr 22
allele count: 3
allele frequency: 2.472676920033628e-5
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.47T>C
  hgvsp: ENSP00000439505.1:p.Ile16Thr
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.290T>C
  hgvsp: ENSP00000216044.5:p.Ile97Thr
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2795T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.47T>C
  hgvsp: ENSP00000442628.1:p.Ile16Thr
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.47T>C
  hgvsp: ENSP00000442881.1:p.Ile16Thr
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.128T>C
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.25e1
  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: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile97Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

22-39104966-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104966
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104966
    reference: chr 22
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+5G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+5G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+5G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+5G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+5G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2814G>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
hgvs: c.304+5G>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-39104976-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104976
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104976
    reference: chr 22
allele count: 34
allele frequency: 2.839201015431893e-4
allele num: 119752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+15C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+15C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+15C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+15C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+15C>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2824C>G
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19530
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20853
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10367
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 9.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-39104977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104977
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104977
    reference: chr 22
allele count: 1
allele frequency: 8.372544751251695e-6
allele num: 119438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2825C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+16C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+16C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+16C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+16C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+16C>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19421
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

22-39104981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104981
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104981
    reference: chr 22
allele count: 5
allele frequency: 4.213719871902916e-5
allele num: 118660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+20C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+20C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+20C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+20C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+20C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2829C>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19114
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

22-39104992-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104992
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104991
    reference: chr 22
allele count: 1
allele frequency: 8.764549151591641e-6
allele num: 114096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+36delA
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+36delA
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+36delA
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2845delA
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+36delA
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+36delA
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: TA
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

22-39104993-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39104993
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39104993
    reference: chr 22
allele count: 1
allele frequency: 8.75902179244622e-6
allele num: 114168
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+32A>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+32A>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+32A>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2841A>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+32A>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+32A>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14326
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

22-39105001-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39105001
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39105001
    reference: chr 22
allele count: 2
allele frequency: 1.874871102611696e-5
allele num: 106674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2849T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+40T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+40T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+40T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+40T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+40T>C
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6329
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8564
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP

22-39105002-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39105002
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39105002
    reference: chr 22
allele count: 1
allele frequency: 9.526168384552365e-6
allele num: 104974
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+41T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+41T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2850T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+41T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+41T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+41T>C
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8689
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

22-39105007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39105007
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39105007
    reference: chr 22
allele count: 10
allele frequency: 1.000160025604097e-4
allele num: 99984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+46C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+46C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+46C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+46C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2855C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+46C>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16028
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18367
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7040
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

22-39105007-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39105007
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39105006
    reference: chr 22
allele count: 1
allele frequency: 1.000160025604097e-5
allele num: 99984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+49delG
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+49delG
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+49delG
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+49delG
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2858delG
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+49delG
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16028
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7040
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: CG
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

22-39105008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39105008
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39105008
    reference: chr 22
allele count: 7
allele frequency: 7.156732440445762e-5
allele num: 97810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+47G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+47G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+47G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+47G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2856G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+47G>A
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15706
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18146
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

22-39105012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39105012
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39105012
    reference: chr 22
allele count: 2
allele frequency: 2.073914305860882e-5
allele num: 96436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+51G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+51G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+51G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+51G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2860G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+51G>A
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15221
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

22-39105013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39105013
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39105013
    reference: chr 22
allele count: 11
allele frequency: 1.182795698924731e-4
allele num: 93000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.142+52C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.304+52C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.61+52C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.61+52C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.61+52C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.192+2861C>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8467
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15091
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17971
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4808
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8731
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum

22-39111875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111875
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111875
    reference: chr 22
allele count: 20
allele frequency: 1.710981076549293e-4
allele num: 116892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.62-37C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.193-37C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.143-37C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.305-37C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.62-37C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.62-37C>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41476
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

22-39111876-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111876
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111875
    reference: chr 22
allele count: 5
allele frequency: 4.271094937898279e-5
allele num: 117066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.62-33delC
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.62-33delC
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.193-33delC
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.143-33delC
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.62-33delC
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.305-33delC
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: TC
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

22-39111882-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111882
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111882
    reference: chr 22
allele count: 2
allele frequency: 1.703229322796021e-5
allele num: 117424
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.305-30T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.193-30T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.62-30T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.143-30T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.62-30T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.62-30T>C
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

22-39111897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111897
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111897
    reference: chr 22
allele count: 1
allele frequency: 8.426587569098018e-6
allele num: 118672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.62-15G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.62-15G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.143-15G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.193-15G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.305-15G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.62-15G>A
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-39111915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111915
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111915
    reference: chr 22
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.146G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.65G>A
  hgvsp: ENSP00000442881.1:p.Gly22Glu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.65G>A
  hgvsp: ENSP00000442628.1:p.Gly22Glu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.196G>A
  hgvsp: ENSP00000397891.1:p.Gly66Arg
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.65G>A
  hgvsp: ENSP00000439505.1:p.Gly22Glu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.308G>A
  hgvsp: ENSP00000216044.5:p.Gly103Glu
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly103Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

22-39111915-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111915
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111915
    reference: chr 22
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.65G>T
  hgvsp: ENSP00000439505.1:p.Gly22Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.196G>T
  hgvsp: ENSP00000397891.1:p.Gly66Ter
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.65G>T
  hgvsp: ENSP00000442881.1:p.Gly22Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.308G>T
  hgvsp: ENSP00000216044.5:p.Gly103Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.65G>T
  hgvsp: ENSP00000442628.1:p.Gly22Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.146G>T
  variant of: http://identifiers.org/hgnc/4669
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly66Ter
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-39111922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111922
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111922
    reference: chr 22
allele count: 1
allele frequency: 8.278008642241022e-6
allele num: 120802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.153G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.72G>A
  hgvsp: ENST00000488787.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.315G>A
  hgvsp: ENST00000216044.5:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.72G>A
  hgvsp: ENST00000470836.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.72G>A
  hgvsp: ENST00000484657.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.203G>A
  hgvsp: ENSP00000397891.1:p.Ser68Asn
  variant of: http://identifiers.org/hgnc/4669
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser68Asn
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

22-39111925-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111925
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111925
    reference: chr 22
allele count: 4
allele frequency: 3.308300526019784e-5
allele num: 120908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.75T>C
  hgvsp: ENST00000484657.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.206T>C
  hgvsp: ENSP00000397891.1:p.Met69Thr
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.75T>C
  hgvsp: ENST00000470836.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.318T>C
  hgvsp: ENST00000216044.5:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.156T>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.75T>C
  hgvsp: ENST00000488787.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met69Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

22-39111928-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111928
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111928
    reference: chr 22
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.209G>C
  hgvsp: ENSP00000397891.1:p.Gly70Ala
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.159G>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.78G>C
  hgvsp: ENST00000484657.1:c.78G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.78G>C
  hgvsp: ENST00000488787.1:c.78G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.321G>C
  hgvsp: ENST00000216044.5:c.321G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.78G>C
  hgvsp: ENST00000470836.1:c.78G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly70Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

22-39111931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111931
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111931
    reference: chr 22
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.212G>A
  hgvsp: ENST00000418601.1:c.212G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.324G>A
  hgvsp: ENST00000216044.5:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.81G>A
  hgvsp: ENST00000488787.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.162G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.81G>A
  hgvsp: ENST00000470836.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.81G>A
  hgvsp: ENST00000484657.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
canonical: false
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ter71Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

22-39111933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111933
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111933
    reference: chr 22
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.326G>A
  hgvsp: ENSP00000216044.5:p.Ser109Asn
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.83G>A
  hgvsp: ENSP00000442881.1:p.Ser28Asn
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.164G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.83G>A
  hgvsp: ENSP00000439505.1:p.Ser28Asn
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.83G>A
  hgvsp: ENSP00000442628.1:p.Ser28Asn
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29654
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44822
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser109Asn
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/22-39111944-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111944
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111944
    reference: chr 22
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*12A>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.94A>C
  hgvsp: ENSP00000442881.1:p.Met32Leu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.94A>C
  hgvsp: ENSP00000442628.1:p.Met32Leu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.94A>C
  hgvsp: ENSP00000439505.1:p.Met32Leu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.175A>C
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.337A>C
  hgvsp: ENSP00000216044.5:p.Met113Leu
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8191
  bin: 6.75e1
  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: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met113Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

22-39111956-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111956
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111956
    reference: chr 22
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.106T>G
  hgvsp: ENSP00000442881.1:p.Tyr36Asp
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.106T>G
  hgvsp: ENSP00000442628.1:p.Tyr36Asp
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.187T>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*24T>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.106T>G
  hgvsp: ENSP00000439505.1:p.Tyr36Asp
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.349T>G
  hgvsp: ENSP00000216044.5:p.Tyr117Asp
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr117Asp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

22-39111958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111958
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111958
    reference: chr 22
allele count: 6
allele frequency: 4.943072284193702e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.108C>T
  hgvsp: ENST00000470836.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.189C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.351C>T
  hgvsp: ENST00000216044.5:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*26C>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.108C>T
  hgvsp: ENST00000484657.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.108C>T
  hgvsp: ENST00000488787.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr117Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

22-39111959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111959
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111959
    reference: chr 22
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.109G>A
  hgvsp: ENSP00000442628.1:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.190G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.109G>A
  hgvsp: ENSP00000442881.1:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.109G>A
  hgvsp: ENSP00000439505.1:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*27G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.352G>A
  hgvsp: ENSP00000216044.5:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29769
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala118Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

22-39111959-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111959
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111959
    reference: chr 22
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.109G>T
  hgvsp: ENSP00000442628.1:p.Ala37Ser
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.190G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.109G>T
  hgvsp: ENSP00000439505.1:p.Ala37Ser
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.109G>T
  hgvsp: ENSP00000442881.1:p.Ala37Ser
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.352G>T
  hgvsp: ENSP00000216044.5:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*27G>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  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
hgvs: p.Ala118Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

22-39111965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111965
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111965
    reference: chr 22
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.115G>A
  hgvsp: ENSP00000442628.1:p.Val39Met
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*33G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.196G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.115G>A
  hgvsp: ENSP00000442881.1:p.Val39Met
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.358G>A
  hgvsp: ENSP00000216044.5:p.Val120Met
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.115G>A
  hgvsp: ENSP00000439505.1:p.Val39Met
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  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
hgvs: p.Val120Met
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

22-39111965-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111965
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111965
    reference: chr 22
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.115G>T
  hgvsp: ENSP00000442881.1:p.Val39Leu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.358G>T
  hgvsp: ENSP00000216044.5:p.Val120Leu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442628
  ensembl transcript: ENST00000470836
  gene symbol: GTPBP1
  hgvsc: ENST00000470836.1:c.115G>T
  hgvsp: ENSP00000442628.1:p.Val39Leu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*33G>T
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.115G>T
  hgvsp: ENSP00000439505.1:p.Val39Leu
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.196G>T
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val120Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-39111974-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111974
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111974
    reference: chr 22
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.367A>G
  hgvsp: ENSP00000216044.5:p.Met123Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.124A>G
  hgvsp: ENSP00000439505.1:p.Met42Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*42A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.124A>G
  hgvsp: ENSP00000442881.1:p.Met42Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.205A>G
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  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: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met123Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

22-39111976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111976
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111976
    reference: chr 22
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.207G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.126G>A
  hgvsp: ENSP00000439505.1:p.Met42Ile
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.126G>A
  hgvsp: ENSP00000442881.1:p.Met42Ile
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.369G>A
  hgvsp: ENSP00000216044.5:p.Met123Ile
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*44G>A
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met123Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

22-39111979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111979
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111979
    reference: chr 22
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.372G>A
  hgvsp: ENST00000216044.5:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.129G>A
  hgvsp: ENST00000488787.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.210G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.129G>A
  hgvsp: ENST00000484657.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8211
  bin: 6.75e1
  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
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 7.75e1
  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: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala124Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

22-39111986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111986
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111986
    reference: chr 22
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.136A>G
  hgvsp: ENSP00000442881.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.379A>G
  hgvsp: ENSP00000216044.5:p.Ile127Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.136A>G
  hgvsp: ENSP00000439505.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.217A>G
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*54A>G
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile127Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

22-39111995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39111995
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39111995
    reference: chr 22
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100226
  ensembl transcript: ENST00000461428
  gene symbol: GTPBP1
  hgvsc: ENST00000461428.1:n.226G>A
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000442881
  ensembl transcript: ENST00000484657
  gene symbol: GTPBP1
  hgvsc: ENST00000484657.1:c.145G>A
  hgvsp: ENSP00000442881.1:p.Asp49Asn
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000216044
  ensembl transcript: ENST00000216044
  gene symbol: GTPBP1
  hgvsc: ENST00000216044.5:c.388G>A
  hgvsp: ENSP00000216044.5:p.Asp130Asn
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000439505
  ensembl transcript: ENST00000488787
  gene symbol: GTPBP1
  hgvsc: ENST00000488787.1:c.145G>A
  hgvsp: ENSP00000439505.1:p.Asp49Asn
  variant of: http://identifiers.org/hgnc/4669
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100226
  ensembl protein: ENSP00000397891
  ensembl transcript: ENST00000418601
  gene symbol: GTPBP1
  hgvsc: ENST00000418601.1:c.*63G>A
  variant of: http://identifiers.org/hgnc/4669
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp130Asn
num of homozygotes: 0
reference allele: G

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.546e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-1

QD
type: SiteQuality
SIO_000300: 1.033e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQRankSum
type: SiteQuality
SIO_000300: -2.548e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.2968e4

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

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

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.263e-1

FS
type: SiteQuality
SIO_000300: 3.499e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

DP
type: SiteQuality
SIO_000300: 1.4686e4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.556e1

GenotypeQuality
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2011
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.909479686386316e-5
allele num: 11224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65484
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 4.451e0

DP
type: SiteQuality
SIO_000300: 1.525541e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.112e1

GenotypeQuality
all individuals: 3568
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 9.75e1
variant carriers: 55

GenotypeQuality
all individuals: 696
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.809691975671964e-5
allele num: 10194
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 53
allele frequency: 8.086171121689247e-4
allele num: 65544
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.486e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.528757e6

VQSLOD
type: SiteQuality
SIO_000300: 5.82e0

GenotypeQuality
all individuals: 1525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.780309773900659e-4
allele num: 11234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65544
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.486e1

DP
type: SiteQuality
SIO_000300: 1.528757e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.82e0

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3443
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.817396426467701e-5
allele num: 10186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.509e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

QD
type: SiteQuality
SIO_000300: 1.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.534386e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.538e0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2658
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GenotypeQuality
all individuals: 547
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.825112988799372e-5
allele num: 10178
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.131e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.048e0

DP
type: SiteQuality
SIO_000300: 1.538469e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.069e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.929e1

GenotypeQuality
all individuals: 2558
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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GenotypeQuality
all individuals: 243
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GenotypeQuality
all individuals: 497
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variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.766444232602478e-4
allele num: 8392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523693432881304e-5
allele num: 65630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.672e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.547453e6

QD
type: SiteQuality
SIO_000300: 1.517e1

GenotypeQuality
all individuals: 1610
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1414
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variant carriers: 1

GenotypeQuality
all individuals: 218
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variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

DP
type: SiteQuality
SIO_000300: 1.566879e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.172e1

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.964e0

GenotypeQuality
all individuals: 1610
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
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variant carriers: 0

GenotypeQuality
all individuals: 309
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variant carriers: 0

GenotypeQuality
all individuals: 218
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variant carriers: 0

GenotypeQuality
all individuals: 247
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variant carriers: 0

GenotypeQuality
all individuals: 7236
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variant carriers: 0

GenotypeQuality
all individuals: 1414
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variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.877840909090909e-5
allele num: 11264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65690
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

DP
type: SiteQuality
SIO_000300: 1.566879e6

QD
type: SiteQuality
SIO_000300: 1.172e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.964e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1503
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7240
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 240
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variant carriers: 0

GenotypeQuality
all individuals: 999
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variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 1199
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GenotypeQuality
all individuals: 217
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65696
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.577671e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.314e1

VQSLOD
type: SiteQuality
SIO_000300: -1.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 728
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variant carriers: 0

GenotypeQuality
all individuals: 251
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GenotypeQuality
all individuals: 573
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variant carriers: 0

GenotypeQuality
all individuals: 1276
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variant carriers: 0

GenotypeQuality
all individuals: 633
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.926829268292683e-4
allele num: 10250
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

DP
type: SiteQuality
SIO_000300: 1.59456e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

FS
type: SiteQuality
SIO_000300: 1.508e0

QD
type: SiteQuality
SIO_000300: 1.112e1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 828
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variant carriers: 0

GenotypeQuality
all individuals: 469
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 1443
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-5
allele num: 65980
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: 16406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.466e1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.48e0

DP
type: SiteQuality
SIO_000300: 1.620404e6

GenotypeQuality
all individuals: 372
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1410
bin: 9.75e1
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GenotypeQuality
all individuals: 258
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GenotypeQuality
all individuals: 44541
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GenotypeQuality
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GenotypeQuality
all individuals: 1271
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variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
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: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

DP
type: SiteQuality
SIO_000300: 1.629375e6

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 1.208e1

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
all individuals: 145
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GenotypeQuality
all individuals: 1405
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.650676e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -9.029e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.376e0

FS
type: SiteQuality
SIO_000300: 9.404999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 263
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GenotypeQuality
all individuals: 1234
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variant carriers: 0

GenotypeQuality
all individuals: 46841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.801e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.709e0

MQ
type: SiteQuality
SIO_000300: 5.647e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.92e0

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

FS
type: SiteQuality
SIO_000300: 1.3232e2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e0

VQSLOD
type: SiteQuality
SIO_000300: -8.651000000000001e1

DP
type: SiteQuality
SIO_000300: 1.655544e6

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 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: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.507888805409467e-5
allele num: 66550
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.658203e6

FS
type: SiteQuality
SIO_000300: 1.51966e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.475e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e0

MQRankSum
type: SiteQuality
SIO_000300: -1.977e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.32e0

VQSLOD
type: SiteQuality
SIO_000300: -1.159e2

QD
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.942e0

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

GenotypeQuality
all individuals: 1463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.395e0

MQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

DP
type: SiteQuality
SIO_000300: 1.664551e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.91e-1

QD
type: SiteQuality
SIO_000300: 3.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.877e1

VQSLOD
type: SiteQuality
SIO_000300: -3.299e0

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

GenotypeQuality
all individuals: 0
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7880
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.116e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.79e-1

FS
type: SiteQuality
SIO_000300: 7.4e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.664906e6

GenotypeQuality
all individuals: 1235
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
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variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.789e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.66484e6

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
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GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
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: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.336e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.665034e6

FS
type: SiteQuality
SIO_000300: 7.516e0

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

GenotypeQuality
all individuals: 525
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7888
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 9.75e1
variant carriers: 1

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: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.075e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

QD
type: SiteQuality
SIO_000300: 2.881e1

DP
type: SiteQuality
SIO_000300: 1.665037e6

MQRankSum
type: SiteQuality
SIO_000300: -1.099e0

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
all individuals: 237
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GenotypeQuality
all individuals: 524
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

MQRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.8e1

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
all individuals: 7
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GenotypeQuality
all individuals: 1463
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 8654
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.665502e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

MQRankSum
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BaseQRankSum
type: SiteQuality
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FS
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Latino
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East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

FS
type: SiteQuality
SIO_000300: 1.867e0

InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
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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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 237
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variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
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 frequency: 0.0e0
allele num: 10404
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.706e0

DP
type: SiteQuality
SIO_000300: 1.665788e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -2.41e0

QD
type: SiteQuality
SIO_000300: 1.26e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.656e0

FS
type: SiteQuality
SIO_000300: 2.199e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 524
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47699
bin: 6.25e1
variant carriers: 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: 8654
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: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

QD
type: SiteQuality
SIO_000300: 1.114e1

VQSLOD
type: SiteQuality
SIO_000300: -1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.711e0

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 1.665862e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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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: 47697
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049066330965441e-4
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 11578
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

FS
type: SiteQuality
SIO_000300: 1.767e0

QD
type: SiteQuality
SIO_000300: 1.065e1

MQ
type: SiteQuality
SIO_000300: 5.918e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

DP
type: SiteQuality
SIO_000300: 1.66629e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.641e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 524
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variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 7.25e1
variant carriers: 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
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.721e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.442e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.66586e6

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 1.276e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

GenotypeQuality
all individuals: 47678
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.897e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.665891e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

FS
type: SiteQuality
SIO_000300: 1.603e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.032e-1

QD
type: SiteQuality
SIO_000300: 1.019e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.603e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.665891e6

QD
type: SiteQuality
SIO_000300: 1.019e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

VQSLOD
type: SiteQuality
SIO_000300: -1.032e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 47677
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variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

QD
type: SiteQuality
SIO_000300: 5.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 1.665732e6

FS
type: SiteQuality
SIO_000300: 3.283e0

VQSLOD
type: SiteQuality
SIO_000300: -4.874e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

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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bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.231e0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.861e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.861e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.665633e6

QD
type: SiteQuality
SIO_000300: 1.307e1

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 8
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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South Asian
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allele count: 0
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East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.871e0

MQ
type: SiteQuality
SIO_000300: 5.805e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.66524e6

FS
type: SiteQuality
SIO_000300: 2.824e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.537205081669691e-4
allele num: 6612
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49829064955317e-5
allele num: 66692
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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Latino
type: Population
allele count: 0
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allele num: 11562
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
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QD
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
all individuals: 47619
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997720866070893e-5
allele num: 66692
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
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African
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allele frequency: 0.0e0
allele num: 10398
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.24e-1

DP
type: SiteQuality
SIO_000300: 1.665446e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47613
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.665223e6

FS
type: SiteQuality
SIO_000300: 1.701e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.172e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
all individuals: 509
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 842
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7790
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.766e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.231e1

DP
type: SiteQuality
SIO_000300: 1.65508e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.59e0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3063
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7484
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 34
allele frequency: 3.329416372894634e-3
allele num: 10212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
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: 65802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

FS
type: SiteQuality
SIO_000300: 1.056e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

DP
type: SiteQuality
SIO_000300: 1.624875e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7415
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1383
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43256
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.906e0

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

DP
type: SiteQuality
SIO_000300: 1.617324e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

QD
type: SiteQuality
SIO_000300: 1.46e1

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1384
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.948269001193792e-5
allele num: 10052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.132711885195633e-5
allele num: 65224
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 6.294e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.674e0

QD
type: SiteQuality
SIO_000300: 1.306e1

DP
type: SiteQuality
SIO_000300: 1.591261e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

GenotypeQuality
all individuals: 3768
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27580
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10896
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.053962900505902e-4
allele num: 9488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15892
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.529e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.384338e6

MQ
type: SiteQuality
SIO_000300: 5.827e1

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3398
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4282
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.053740779768177e-4
allele num: 9490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10902
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.637e0

QD
type: SiteQuality
SIO_000300: 7.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.029e0

MQRankSum
type: SiteQuality
SIO_000300: -5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.382831e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

GenotypeQuality
all individuals: 9594
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5663
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 205
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14982
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58134
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.169864295741694e-4
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15490
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
type: SiteQuality
SIO_000300: -6.320000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

FS
type: SiteQuality
SIO_000300: 3.129e0

DP
type: SiteQuality
SIO_000300: 1.115515e6

GenotypeQuality
all individuals: 14384
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2266
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5658
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.750271292050268e-5
allele num: 57134
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

QD
type: SiteQuality
SIO_000300: 1.23e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.404e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.094779e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1618
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5535
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3663
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.538715410002539e-4
allele num: 7878
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.004543632233062e-4
allele num: 14966
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.807200929152149e-4
allele num: 6888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.837222120154327e-5
allele num: 54430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.040684e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

FS
type: SiteQuality
SIO_000300: 2.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
all individuals: 1680
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5532
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5535
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.837222120154327e-5
allele num: 54430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.229e1

FS
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 1.040684e6

GenotypeQuality
all individuals: 5443
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3947
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 11999
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2957
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6704
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.379748546708125e-4
allele num: 14794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.761802655832675e-5
allele num: 53166
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 1.029092e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.334e1

GenotypeQuality
all individuals: 11419
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5509
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8865
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3251
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.353729524840937e-4
allele num: 14774
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.57e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.014033e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.062e0

VQSLOD
type: SiteQuality
SIO_000300: -1.513e0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7096
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2943
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.40331181588549e-4
allele num: 7126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.843620260171603e-4
allele num: 14452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.92323487600695e-5
allele num: 50648
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

FS
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.009481e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

GenotypeQuality
all individuals: 714
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 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: 10356
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 20
allele frequency: 1.733402669440111e-3
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.023e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.129e1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

DP
type: SiteQuality
SIO_000300: 1.64393e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7493
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41615
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.489868891537545e-4
allele num: 13424
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
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: 3
allele frequency: 4.571637560574198e-5
allele num: 65622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.701e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 1.643178e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

FS
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

GenotypeQuality
all individuals: 809
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7538
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044047365377005e-5
allele num: 65702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13692
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.23e0

QD
type: SiteQuality
SIO_000300: 1.102e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.648645e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43299
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 377
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515335192144502e-5
allele num: 65992
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14594
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 1.042e0

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e-1

DP
type: SiteQuality
SIO_000300: 1.66951e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

MQ
type: SiteQuality
SIO_000300: 5.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.299e0

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

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1905
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
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: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 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: 11568
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

DP
type: SiteQuality
SIO_000300: 1.694231e6

FS
type: SiteQuality
SIO_000300: 2.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.317e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8004
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 11568
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)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

DP
type: SiteQuality
SIO_000300: 1.694231e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 2.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66556
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South Asian
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East Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

MQRankSum
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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QD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -9.88e-1

DP
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MQ
type: SiteQuality
SIO_000300: 5.971e1

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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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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East Asian
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allele frequency: 4.623208506703652e-4
allele num: 8652
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.528e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

GenotypeQuality
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variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -1.224e0

FS
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SIO_000300: 1.163e0

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

European (Non-Finnish)
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allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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Other
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num of homozygotes: 0

FS
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SIO_000300: 0.0e0

MQ
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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QD
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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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variant carriers: 0

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

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

Latino
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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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.61e-1

QD
type: SiteQuality
SIO_000300: 4.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.694e0

DP
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SIO_000300: 1.705855e6

VQSLOD
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SIO_000300: -2.179e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.99868058054456e-5
allele num: 66696
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

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

South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

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

Latino
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ReadPosRankSum
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SIO_000300: 2.54e-1

BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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QD
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FS
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

South Asian
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allele num: 16510
num of homozygotes: 0

European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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African
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allele num: 10404
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Other
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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MQ
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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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African
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South Asian
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European (Finnish)
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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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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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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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GenotypeQuality
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European (Finnish)
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Other
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African
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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DP
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
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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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East Asian
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African
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allele num: 10406
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: 66730
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.444e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.23e0

DP
type: SiteQuality
SIO_000300: 1.709731e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1710
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 11574
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.82e-2

DP
type: SiteQuality
SIO_000300: 1.709731e6

MQRankSum
type: SiteQuality
SIO_000300: -1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.444e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 983
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 9.75e1
variant carriers: 1

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

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

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

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.421e1

FS
type: SiteQuality
SIO_000300: 6.155e0

DP
type: SiteQuality
SIO_000300: 1.709466e6

MQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 1993
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.204e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.70934e6

VQSLOD
type: SiteQuality
SIO_000300: -4.727e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.97e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.803e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

FS
type: SiteQuality
SIO_000300: 6.01e-1

QD
type: SiteQuality
SIO_000300: 1.591e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.802e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.709007e6

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
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: 8650
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.707222e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0