8-52320638-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320638
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320638
    reference: chr 8
allele count: 1
allele frequency: 9.363120540813842e-6
allele num: 106802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3546A>C
  hgvsp: ENSP00000444865.1:p.Gln1182His
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.902A>C
  hgvsp: ENSP00000428114.1:p.Gln301His
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1344A>C
  hgvsp: ENSP00000429855.1:p.Gln448His
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3546A>C
  hgvsp: ENSP00000348645.4:p.Gln1182His
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6806
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln1182His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

8-52320640-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320640
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320640
    reference: chr 8
allele count: 5
allele frequency: 4.623465009616807e-5
allele num: 108144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3544C>G
  hgvsp: ENSP00000444865.1:p.Gln1182Glu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3544C>G
  hgvsp: ENSP00000348645.4:p.Gln1182Glu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1342C>G
  hgvsp: ENSP00000429855.1:p.Gln448Glu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.900C>G
  hgvsp: ENSP00000428114.1:p.Gln301Glu
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41716
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln1182Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-52320642-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320642
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320642
    reference: chr 8
allele count: 29
allele frequency: 2.652180275095113e-4
allele num: 109344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3542G>T
  hgvsp: ENSP00000348645.4:p.Arg1181Ile
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1340G>T
  hgvsp: ENSP00000429855.1:p.Arg447Ile
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3542G>T
  hgvsp: ENSP00000444865.1:p.Arg1181Ile
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.898G>T
  hgvsp: ENSP00000428114.1:p.Arg300Ile
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42274
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 144
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genotype quality: GenotypeQuality
  all individuals: 301
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1181Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-52320657-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320657
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320657
    reference: chr 8
allele count: 26
allele frequency: 2.241186104646151e-4
allele num: 116010
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3527A>C
  hgvsp: ENSP00000348645.4:p.Lys1176Thr
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3527A>C
  hgvsp: ENSP00000444865.1:p.Lys1176Thr
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1325A>C
  hgvsp: ENSP00000429855.1:p.Lys442Thr
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.883A>C
  hgvsp: ENSP00000428114.1:p.Lys295Thr
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys1176Thr
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: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-52320669-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320669
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320669
    reference: chr 8
allele count: 22
allele frequency: 1.853474422052976e-4
allele num: 118696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3515A>T
  hgvsp: ENSP00000444865.1:p.Gln1172Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.871A>T
  hgvsp: ENSP00000428114.1:p.Gln291Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1313A>T
  hgvsp: ENSP00000429855.1:p.Gln438Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3515A>T
  hgvsp: ENSP00000348645.4:p.Gln1172Leu
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9189
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 46483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln1172Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

8-52320686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320686
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320686
    reference: chr 8
allele count: 2
allele frequency: 1.662234042553192e-5
allele num: 120320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3498G>A
  hgvsp: ENST00000543296.1:c.3498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3498G>A
  hgvsp: ENST00000356297.4:c.3498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1296G>A
  hgvsp: ENST00000522628.1:c.1296G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.854G>A
  hgvsp: ENST00000522933.1:c.854G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys1166Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

8-52320710-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320710
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320710
    reference: chr 8
allele count: 305
allele frequency: 2.52696813534607e-3
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3474T>A
  hgvsp: ENST00000543296.1:c.3474T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1272T>A
  hgvsp: ENST00000522628.1:c.1272T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3474T>A
  hgvsp: ENST00000356297.4:c.3474T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.830T>A
  hgvsp: ENST00000522933.1:c.830T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 9.75e1
  variant carriers: 303
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52709
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val1158Val
num of homozygotes: 2
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

8-52320716-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320716
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320716
    reference: chr 8
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3468C>A
  hgvsp: ENSP00000444865.1:p.Phe1156Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3468C>A
  hgvsp: ENSP00000348645.4:p.Phe1156Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.824C>A
  hgvsp: ENSP00000428114.1:p.Phe275Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1266C>A
  hgvsp: ENSP00000429855.1:p.Phe422Leu
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe1156Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum

8-52320723-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320723
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320723
    reference: chr 8
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3461T>C
  hgvsp: ENSP00000444865.1:p.Val1154Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.817T>C
  hgvsp: ENSP00000428114.1:p.Val273Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3461T>C
  hgvsp: ENSP00000348645.4:p.Val1154Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1259T>C
  hgvsp: ENSP00000429855.1:p.Val420Ala
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 7.25e1
  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: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1154Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

8-52320738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320738
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320738
    reference: chr 8
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3446G>A
  hgvsp: ENSP00000348645.4:p.Gly1149Glu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3446G>A
  hgvsp: ENSP00000444865.1:p.Gly1149Glu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.802G>A
  hgvsp: ENSP00000428114.1:p.Gly268Glu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1244G>A
  hgvsp: ENSP00000429855.1:p.Gly415Glu
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly1149Glu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-52320740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320740
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320740
    reference: chr 8
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3444C>T
  hgvsp: ENST00000543296.1:c.3444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3444C>T
  hgvsp: ENST00000356297.4:c.3444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1242C>T
  hgvsp: ENST00000522628.1:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.800C>T
  hgvsp: ENST00000522933.1:c.800C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His1148His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

8-52320741-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320741
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320741
    reference: chr 8
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3443A>G
  hgvsp: ENSP00000444865.1:p.His1148Arg
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.799A>G
  hgvsp: ENSP00000428114.1:p.His267Arg
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1241A>G
  hgvsp: ENSP00000429855.1:p.His414Arg
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3443A>G
  hgvsp: ENSP00000348645.4:p.His1148Arg
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His1148Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-52320742-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320742
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320742
    reference: chr 8
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.798C>A
  hgvsp: ENSP00000428114.1:p.His267Asn
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3442C>A
  hgvsp: ENSP00000444865.1:p.His1148Asn
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3442C>A
  hgvsp: ENSP00000348645.4:p.His1148Asn
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1240C>A
  hgvsp: ENSP00000429855.1:p.His414Asn
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  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: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His1148Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

8-52320748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320748
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320748
    reference: chr 8
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.792A>G
  hgvsp: ENSP00000428114.1:p.Arg265Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3436A>G
  hgvsp: ENSP00000444865.1:p.Arg1146Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1234A>G
  hgvsp: ENSP00000429855.1:p.Arg412Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3436A>G
  hgvsp: ENSP00000348645.4:p.Arg1146Gly
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  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: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg1146Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/8-52320749-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320749
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320748
    reference: chr 8
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1232delG
  hgvsp: ENSP00000429855.1:p.Gly411ValfsTer18
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.790delG
  hgvsp: ENSP00000428114.1:p.Gly264ValfsTer18
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3434delG
  hgvsp: ENSP00000444865.1:p.Gly1145ValfsTer18
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3434delG
  hgvsp: ENSP00000348645.4:p.Gly1145ValfsTer18
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1145ValfsTer18
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: AC
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-52320756-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320756
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320756
    reference: chr 8
allele count: 4
allele frequency: 3.313782019418762e-5
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3428A>G
  hgvsp: ENSP00000444865.1:p.Gln1143Arg
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3428A>G
  hgvsp: ENSP00000348645.4:p.Gln1143Arg
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1226A>G
  hgvsp: ENSP00000429855.1:p.Gln409Arg
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.784A>G
  hgvsp: ENSP00000428114.1:p.Gln262Arg
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 52873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln1143Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

8-52320763-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320763
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320763
    reference: chr 8
allele count: 2
allele frequency: 1.657055743355207e-5
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3421A>G
  hgvsp: ENSP00000444865.1:p.Ile1141Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.777A>G
  hgvsp: ENSP00000428114.1:p.Ile260Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3421A>G
  hgvsp: ENSP00000348645.4:p.Ile1141Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1219A>G
  hgvsp: ENSP00000429855.1:p.Ile407Val
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile1141Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-52320765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320765
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320765
    reference: chr 8
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3419C>T
  hgvsp: ENSP00000348645.4:p.Thr1140Ile
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3419C>T
  hgvsp: ENSP00000444865.1:p.Thr1140Ile
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1217C>T
  hgvsp: ENSP00000429855.1:p.Thr406Ile
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.775C>T
  hgvsp: ENSP00000428114.1:p.Thr259Ile
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr1140Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

8-52320770-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320770
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320770
    reference: chr 8
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.770T>C
  hgvsp: ENST00000522933.1:c.770T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3414T>C
  hgvsp: ENST00000356297.4:c.3414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1212T>C
  hgvsp: ENST00000522628.1:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3414T>C
  hgvsp: ENST00000543296.1:c.3414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 875
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala1138Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/8-52320781-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320781
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320781
    reference: chr 8
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3403G>T
  hgvsp: ENSP00000348645.4:p.Val1135Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1201G>T
  hgvsp: ENSP00000429855.1:p.Val401Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.759G>T
  hgvsp: ENSP00000428114.1:p.Val254Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3403G>T
  hgvsp: ENSP00000444865.1:p.Val1135Leu
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val1135Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-52320782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320782
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320782
    reference: chr 8
allele count: 2
allele frequency: 1.657495193263939e-5
allele num: 120664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1200C>T
  hgvsp: ENST00000522628.1:c.1200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3402C>T
  hgvsp: ENST00000543296.1:c.3402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.758C>T
  hgvsp: ENST00000522933.1:c.758C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3402C>T
  hgvsp: ENST00000356297.4:c.3402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52672
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1134Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-52320782-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320782
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320782
    reference: chr 8
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1200C>G
  hgvsp: ENST00000522628.1:c.1200C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3402C>G
  hgvsp: ENST00000543296.1:c.3402C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3402C>G
  hgvsp: ENST00000356297.4:c.3402C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.758C>G
  hgvsp: ENST00000522933.1:c.758C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1134Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

8-52320786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320786
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320786
    reference: chr 8
allele count: 810
allele frequency: 6.714636249088136e-3
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3398C>T
  hgvsp: ENSP00000444865.1:p.Ala1133Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.754C>T
  hgvsp: ENSP00000428114.1:p.Ala252Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1196C>T
  hgvsp: ENSP00000429855.1:p.Ala399Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3398C>T
  hgvsp: ENSP00000348645.4:p.Ala1133Val
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 9797
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46461
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 533
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 9.75e1
  variant carriers: 785
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52156
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1133Val
num of homozygotes: 22
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-52320787-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320787
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320787
    reference: chr 8
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1195G>T
  hgvsp: ENSP00000429855.1:p.Ala399Ser
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3397G>T
  hgvsp: ENSP00000348645.4:p.Ala1133Ser
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.753G>T
  hgvsp: ENSP00000428114.1:p.Ala252Ser
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3397G>T
  hgvsp: ENSP00000444865.1:p.Ala1133Ser
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52541
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1133Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

8-52320792-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320792
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320792
    reference: chr 8
allele count: 4
allele frequency: 3.315814778586468e-5
allele num: 120634
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3392A>G
  hgvsp: ENSP00000348645.4:p.Tyr1131Cys
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.748A>G
  hgvsp: ENSP00000428114.1:p.Tyr250Cys
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1190A>G
  hgvsp: ENSP00000429855.1:p.Tyr397Cys
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3392A>G
  hgvsp: ENSP00000444865.1:p.Tyr1131Cys
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr1131Cys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

8-52320793-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320793
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320793
    reference: chr 8
allele count: 8
allele frequency: 6.631189801230086e-5
allele num: 120642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3391T>A
  hgvsp: ENSP00000348645.4:p.Tyr1131Asn
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3391T>A
  hgvsp: ENSP00000444865.1:p.Tyr1131Asn
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.747T>A
  hgvsp: ENSP00000428114.1:p.Tyr250Asn
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1189T>A
  hgvsp: ENSP00000429855.1:p.Tyr397Asn
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr1131Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-52320795-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320795
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320795
    reference: chr 8
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.745C>G
  hgvsp: ENSP00000428114.1:p.Ala249Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3389C>G
  hgvsp: ENSP00000348645.4:p.Ala1130Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3389C>G
  hgvsp: ENSP00000444865.1:p.Ala1130Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1187C>G
  hgvsp: ENSP00000429855.1:p.Ala396Gly
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1130Gly
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-52320798-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320798
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320798
    reference: chr 8
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3386C>G
  hgvsp: ENSP00000444865.1:p.Ala1129Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1184C>G
  hgvsp: ENSP00000429855.1:p.Ala395Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.742C>G
  hgvsp: ENSP00000428114.1:p.Ala248Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3386C>G
  hgvsp: ENSP00000348645.4:p.Ala1129Gly
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1129Gly
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

8-52320799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320799
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320799
    reference: chr 8
allele count: 3
allele frequency: 2.486861083939851e-5
allele num: 120634
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3385G>A
  hgvsp: ENSP00000348645.4:p.Ala1129Thr
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3385G>A
  hgvsp: ENSP00000444865.1:p.Ala1129Thr
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1183G>A
  hgvsp: ENSP00000429855.1:p.Ala395Thr
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.741G>A
  hgvsp: ENSP00000428114.1:p.Ala248Thr
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46605
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1129Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

8-52320799-CGGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320799
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320796
    reference: chr 8
allele count: 5
allele frequency: 4.144768473233085e-5
allele num: 120634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.738_740delTCC
  hgvsp: ENSP00000428114.1:p.Ser247del
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1180_1182delTCC
  hgvsp: ENSP00000429855.1:p.Ser394del
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3382_3384delTCC
  hgvsp: ENSP00000444865.1:p.Ser1128del
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3382_3384delTCC
  hgvsp: ENSP00000348645.4:p.Ser1128del
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser1128del
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: CGGA
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

8-52320810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320810
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320810
    reference: chr 8
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3374G>A
  hgvsp: ENSP00000348645.4:p.Arg1125Lys
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.730G>A
  hgvsp: ENSP00000428114.1:p.Arg244Lys
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3374G>A
  hgvsp: ENSP00000444865.1:p.Arg1125Lys
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1172G>A
  hgvsp: ENSP00000429855.1:p.Arg391Lys
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1125Lys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

8-52320811-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320811
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320811
    reference: chr 8
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1171A>T
  hgvsp: ENSP00000429855.1:p.Arg391Trp
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.729A>T
  hgvsp: ENSP00000428114.1:p.Arg244Trp
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3373A>T
  hgvsp: ENSP00000444865.1:p.Arg1125Trp
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3373A>T
  hgvsp: ENSP00000348645.4:p.Arg1125Trp
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg1125Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

8-52320816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320816
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320816
    reference: chr 8
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3368C>T
  hgvsp: ENSP00000444865.1:p.Thr1123Ile
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1166C>T
  hgvsp: ENSP00000429855.1:p.Thr389Ile
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3368C>T
  hgvsp: ENSP00000348645.4:p.Thr1123Ile
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.724C>T
  hgvsp: ENSP00000428114.1:p.Thr242Ile
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1123Ile
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

8-52320828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320828
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320828
    reference: chr 8
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.712G>A
  hgvsp: ENSP00000428114.1:p.Ser238Asn
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3356G>A
  hgvsp: ENSP00000348645.4:p.Ser1119Asn
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1154G>A
  hgvsp: ENSP00000429855.1:p.Ser385Asn
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3356G>A
  hgvsp: ENSP00000444865.1:p.Ser1119Asn
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1119Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-52320832-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320832
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320832
    reference: chr 8
allele count: 324
allele frequency: 2.687547695676698e-3
allele num: 120556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3352C>G
  hgvsp: ENSP00000444865.1:p.Leu1118Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3352C>G
  hgvsp: ENSP00000348645.4:p.Leu1118Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.708C>G
  hgvsp: ENSP00000428114.1:p.Leu237Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1150C>G
  hgvsp: ENSP00000429855.1:p.Leu384Val
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 46189
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10087
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1118Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-52320834-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320834
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320834
    reference: chr 8
allele count: 2
allele frequency: 1.65892501658925e-5
allele num: 120560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3350T>A
  hgvsp: ENSP00000444865.1:p.Leu1117His
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.706T>A
  hgvsp: ENSP00000428114.1:p.Leu236His
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1148T>A
  hgvsp: ENSP00000429855.1:p.Leu383His
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3350T>A
  hgvsp: ENSP00000348645.4:p.Leu1117His
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1117His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-52320840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320840
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320840
    reference: chr 8
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.700C>T
  hgvsp: ENSP00000428114.1:p.Ser234Phe
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3344C>T
  hgvsp: ENSP00000348645.4:p.Ser1115Phe
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3344C>T
  hgvsp: ENSP00000444865.1:p.Ser1115Phe
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1142C>T
  hgvsp: ENSP00000429855.1:p.Ser381Phe
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52049
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser1115Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/8-52320841-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320841
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320841
    reference: chr 8
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.699T>G
  hgvsp: ENSP00000428114.1:p.Ser234Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3343T>G
  hgvsp: ENSP00000444865.1:p.Ser1115Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1141T>G
  hgvsp: ENSP00000429855.1:p.Ser381Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3343T>G
  hgvsp: ENSP00000348645.4:p.Ser1115Ala
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1115Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

8-52320842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320842
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320842
    reference: chr 8
allele count: 5
allele frequency: 4.147725387397552e-5
allele num: 120548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.698C>T
  hgvsp: ENST00000522933.1:c.698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1140C>T
  hgvsp: ENST00000522628.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3342C>T
  hgvsp: ENST00000356297.4:c.3342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3342C>T
  hgvsp: ENST00000543296.1:c.3342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro1114Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

8-52320849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320849
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320849
    reference: chr 8
allele count: 2
allele frequency: 1.659282857948795e-5
allele num: 120534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1133G>A
  hgvsp: ENSP00000429855.1:p.Arg378Gln
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3335G>A
  hgvsp: ENSP00000348645.4:p.Arg1112Gln
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.691G>A
  hgvsp: ENSP00000428114.1:p.Arg231Gln
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3335G>A
  hgvsp: ENSP00000444865.1:p.Arg1112Gln
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg1112Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

8-52320850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320850
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320850
    reference: chr 8
allele count: 2
allele frequency: 1.659448067572725e-5
allele num: 120522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.690C>T
  hgvsp: ENSP00000428114.1:p.Arg231Trp
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3334C>T
  hgvsp: ENSP00000348645.4:p.Arg1112Trp
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3334C>T
  hgvsp: ENSP00000444865.1:p.Arg1112Trp
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1132C>T
  hgvsp: ENSP00000429855.1:p.Arg378Trp
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52364
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1112Trp
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

8-52320850-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320850
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320850
    reference: chr 8
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3334C>G
  hgvsp: ENSP00000444865.1:p.Arg1112Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3334C>G
  hgvsp: ENSP00000348645.4:p.Arg1112Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.690C>G
  hgvsp: ENSP00000428114.1:p.Arg231Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1132C>G
  hgvsp: ENSP00000429855.1:p.Arg378Gly
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1112Gly
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

8-52320851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320851
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320851
    reference: chr 8
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3333G>A
  hgvsp: ENSP00000444865.1:p.Trp1111Ter
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.689G>A
  hgvsp: ENSP00000428114.1:p.Trp230Ter
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3333G>A
  hgvsp: ENSP00000348645.4:p.Trp1111Ter
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1131G>A
  hgvsp: ENSP00000429855.1:p.Trp377Ter
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp1111Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

8-52320853-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320853
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320853
    reference: chr 8
allele count: 19
allele frequency: 1.576109498133555e-4
allele num: 120550
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3331T>A
  hgvsp: ENSP00000348645.4:p.Trp1111Arg
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1129T>A
  hgvsp: ENSP00000429855.1:p.Trp377Arg
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.687T>A
  hgvsp: ENSP00000428114.1:p.Trp230Arg
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3331T>A
  hgvsp: ENSP00000444865.1:p.Trp1111Arg
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp1111Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

8-52320858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320858
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320858
    reference: chr 8
allele count: 10
allele frequency: 8.296414289743973e-5
allele num: 120534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.682C>T
  hgvsp: ENSP00000428114.1:p.Ala228Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1124C>T
  hgvsp: ENSP00000429855.1:p.Ala375Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3326C>T
  hgvsp: ENSP00000444865.1:p.Ala1109Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3326C>T
  hgvsp: ENSP00000348645.4:p.Ala1109Val
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1109Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/8-52320859-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320859
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320859
    reference: chr 8
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3325G>T
  hgvsp: ENSP00000444865.1:p.Ala1109Ser
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1123G>T
  hgvsp: ENSP00000429855.1:p.Ala375Ser
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3325G>T
  hgvsp: ENSP00000348645.4:p.Ala1109Ser
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.681G>T
  hgvsp: ENSP00000428114.1:p.Ala228Ser
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1109Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

8-52320865-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320865
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320865
    reference: chr 8
allele count: 3
allele frequency: 2.489172101359088e-5
allele num: 120522
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3319G>A
  hgvsp: ENSP00000348645.4:p.Val1107Met
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3319G>A
  hgvsp: ENSP00000444865.1:p.Val1107Met
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1117G>A
  hgvsp: ENSP00000429855.1:p.Val373Met
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.675G>A
  hgvsp: ENSP00000428114.1:p.Val226Met
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1107Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/8-52320868-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320868
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320867
    reference: chr 8
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.671delT
  hgvsp: ENSP00000428114.1:p.Phe224LeufsTer18
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1113delT
  hgvsp: ENSP00000429855.1:p.Phe371LeufsTer18
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3315delT
  hgvsp: ENSP00000348645.4:p.Phe1105LeufsTer18
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3315delT
  hgvsp: ENSP00000444865.1:p.Phe1105LeufsTer18
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe1105LeufsTer18
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: CA
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/8-52320875-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320875
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320875
    reference: chr 8
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.665G>T
  hgvsp: ENST00000522933.1:c.665G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3309G>T
  hgvsp: ENST00000543296.1:c.3309G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1107G>T
  hgvsp: ENST00000522628.1:c.1107G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3309G>T
  hgvsp: ENST00000356297.4:c.3309G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1103Gly
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

8-52320875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320875
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320875
    reference: chr 8
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1107G>A
  hgvsp: ENST00000522628.1:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3309G>A
  hgvsp: ENST00000356297.4:c.3309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3309G>A
  hgvsp: ENST00000543296.1:c.3309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.665G>A
  hgvsp: ENST00000522933.1:c.665G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly1103Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/8-52320876-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320876
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320876
    reference: chr 8
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3308G>T
  hgvsp: ENSP00000348645.4:p.Gly1103Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.664G>T
  hgvsp: ENSP00000428114.1:p.Gly222Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1106G>T
  hgvsp: ENSP00000429855.1:p.Gly369Val
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3308G>T
  hgvsp: ENSP00000444865.1:p.Gly1103Val
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1103Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-52320881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320881
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320881
    reference: chr 8
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3303C>T
  hgvsp: ENST00000543296.1:c.3303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.659C>T
  hgvsp: ENST00000522933.1:c.659C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1101C>T
  hgvsp: ENST00000522628.1:c.1101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3303C>T
  hgvsp: ENST00000356297.4:c.3303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1101Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

8-52320885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320885
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320885
    reference: chr 8
allele count: 3
allele frequency: 2.489172101359088e-5
allele num: 120522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1097T>C
  hgvsp: ENSP00000429855.1:p.Val366Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.655T>C
  hgvsp: ENSP00000428114.1:p.Val219Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3299T>C
  hgvsp: ENSP00000444865.1:p.Val1100Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3299T>C
  hgvsp: ENSP00000348645.4:p.Val1100Ala
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Val1100Ala
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

8-52320888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320888
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320888
    reference: chr 8
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1094C>T
  hgvsp: ENSP00000429855.1:p.Pro365Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3296C>T
  hgvsp: ENSP00000444865.1:p.Pro1099Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3296C>T
  hgvsp: ENSP00000348645.4:p.Pro1099Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.652C>T
  hgvsp: ENSP00000428114.1:p.Pro218Leu
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1099Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

8-52320890-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320890
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320890
    reference: chr 8
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3294C>A
  hgvsp: ENSP00000348645.4:p.Asp1098Glu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.650C>A
  hgvsp: ENSP00000428114.1:p.Asp217Glu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3294C>A
  hgvsp: ENSP00000444865.1:p.Asp1098Glu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1092C>A
  hgvsp: ENSP00000429855.1:p.Asp364Glu
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp1098Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-52320893-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320893
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320893
    reference: chr 8
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1089A>T
  hgvsp: ENST00000522628.1:c.1089A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3291A>T
  hgvsp: ENST00000543296.1:c.3291A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3291A>T
  hgvsp: ENST00000356297.4:c.3291A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.647A>T
  hgvsp: ENST00000522933.1:c.647A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile1097Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

8-52320904-C-CGCATTTGCATACTTACTTTCTCAGTTTTTGTCTAATCTCTGAATCTTTAATTTCATTTTGAAGATCCTCAAAGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320904
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320979
    reference: chr 8
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: CGCATTTGCATACTTACTTTCTCAGTTTTTGTCTAATCTCTGAATCTTTAATTTCATTTTGAAGATCCTCAAAGTT
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

8-52320909-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320909
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320909
    reference: chr 8
allele count: 76
allele frequency: 6.305588742864729e-4
allele num: 120528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1073T>C
  hgvsp: ENSP00000429855.1:p.Ile358Thr
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.631T>C
  hgvsp: ENSP00000428114.1:p.Ile211Thr
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3275T>C
  hgvsp: ENSP00000348645.4:p.Ile1092Thr
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3275T>C
  hgvsp: ENSP00000444865.1:p.Ile1092Thr
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 45907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 9.75e1
  variant carriers: 76
hgvs: p.Ile1092Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

8-52320909-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320909
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320909
    reference: chr 8
allele count: 12
allele frequency: 9.956192751891676e-5
allele num: 120528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3275T>A
  hgvsp: ENSP00000444865.1:p.Ile1092Asn
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1073T>A
  hgvsp: ENSP00000429855.1:p.Ile358Asn
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.631T>A
  hgvsp: ENSP00000428114.1:p.Ile211Asn
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3275T>A
  hgvsp: ENSP00000348645.4:p.Ile1092Asn
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile1092Asn
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

8-52320912-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320912
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320912
    reference: chr 8
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.628T>A
  hgvsp: ENSP00000428114.1:p.Ile210Lys
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3272T>A
  hgvsp: ENSP00000444865.1:p.Ile1091Lys
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3272T>A
  hgvsp: ENSP00000348645.4:p.Ile1091Lys
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1070T>A
  hgvsp: ENSP00000429855.1:p.Ile357Lys
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile1091Lys
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

8-52320916-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320916
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320916
    reference: chr 8
allele count: 2
allele frequency: 1.659255326209597e-5
allele num: 120536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3268A>G
  hgvsp: ENSP00000444865.1:p.Arg1090Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1066A>G
  hgvsp: ENSP00000429855.1:p.Arg356Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3268A>G
  hgvsp: ENSP00000348645.4:p.Arg1090Gly
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.624A>G
  hgvsp: ENSP00000428114.1:p.Arg209Gly
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1090Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

8-52320921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320921
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320921
    reference: chr 8
allele count: 4
allele frequency: 3.318290416777277e-5
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3263C>T
  hgvsp: ENSP00000444865.1:p.Pro1088Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1061C>T
  hgvsp: ENSP00000429855.1:p.Pro354Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3263C>T
  hgvsp: ENSP00000348645.4:p.Pro1088Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.619C>T
  hgvsp: ENSP00000428114.1:p.Pro207Leu
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1088Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

8-52320928-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320928
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320928
    reference: chr 8
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1054T>C
  hgvsp: ENSP00000429855.1:p.Phe352Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.612T>C
  hgvsp: ENSP00000428114.1:p.Phe205Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3256T>C
  hgvsp: ENSP00000444865.1:p.Phe1086Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3256T>C
  hgvsp: ENSP00000348645.4:p.Phe1086Leu
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe1086Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

8-52320931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320931
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320931
    reference: chr 8
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1051C>T
  hgvsp: ENSP00000429855.1:p.Leu351Phe
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3253C>T
  hgvsp: ENSP00000444865.1:p.Leu1085Phe
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3253C>T
  hgvsp: ENSP00000348645.4:p.Leu1085Phe
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.609C>T
  hgvsp: ENSP00000428114.1:p.Leu204Phe
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1085Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

8-52320932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320932
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320932
    reference: chr 8
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.608G>A
  hgvsp: ENST00000522933.1:c.608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1050G>A
  hgvsp: ENST00000522628.1:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3252G>A
  hgvsp: ENST00000543296.1:c.3252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3252G>A
  hgvsp: ENST00000356297.4:c.3252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1084Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

8-52320933-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320933
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320933
    reference: chr 8
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3251C>A
  hgvsp: ENSP00000348645.4:p.Ala1084Glu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1049C>A
  hgvsp: ENSP00000429855.1:p.Ala350Glu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3251C>A
  hgvsp: ENSP00000444865.1:p.Ala1084Glu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.607C>A
  hgvsp: ENSP00000428114.1:p.Ala203Glu
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52623
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1084Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

8-52320945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320945
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320945
    reference: chr 8
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3239C>T
  hgvsp: ENSP00000348645.4:p.Pro1080Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3239C>T
  hgvsp: ENSP00000444865.1:p.Pro1080Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.595C>T
  hgvsp: ENSP00000428114.1:p.Pro199Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1037C>T
  hgvsp: ENSP00000429855.1:p.Pro346Leu
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro1080Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

8-52320954-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320954
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320954
    reference: chr 8
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.586G>C
  hgvsp: ENSP00000428114.1:p.Gly196Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1028G>C
  hgvsp: ENSP00000429855.1:p.Gly343Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3230G>C
  hgvsp: ENSP00000348645.4:p.Gly1077Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3230G>C
  hgvsp: ENSP00000444865.1:p.Gly1077Ala
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1077Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

8-52320958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320958
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320958
    reference: chr 8
allele count: 1
allele frequency: 8.307303781484682e-6
allele num: 120376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3226G>A
  hgvsp: ENSP00000444865.1:p.Glu1076Lys
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.582G>A
  hgvsp: ENSP00000428114.1:p.Glu195Lys
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1024G>A
  hgvsp: ENSP00000429855.1:p.Glu342Lys
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3226G>A
  hgvsp: ENSP00000348645.4:p.Glu1076Lys
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1076Lys
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

8-52320976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320976
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320976
    reference: chr 8
allele count: 1
allele frequency: 8.334444592612349e-6
allele num: 119984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3208A>G
  hgvsp: ENSP00000444865.1:p.Thr1070Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3208A>G
  hgvsp: ENSP00000348645.4:p.Thr1070Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.564A>G
  hgvsp: ENSP00000428114.1:p.Thr189Ala
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.1006A>G
  hgvsp: ENSP00000429855.1:p.Thr336Ala
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr1070Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/8-52320984-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320984
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320984
    reference: chr 8
allele count: 2
allele frequency: 1.671402306535183e-5
allele num: 119660
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3200T>G
  hgvsp: ENSP00000348645.4:p.Leu1067Arg
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3200T>G
  hgvsp: ENSP00000444865.1:p.Leu1067Arg
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.556T>G
  hgvsp: ENSP00000428114.1:p.Leu186Arg
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.998T>G
  hgvsp: ENSP00000429855.1:p.Leu333Arg
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1067Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

8-52320987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320987
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320987
    reference: chr 8
allele count: 1
allele frequency: 8.364840900726069e-6
allele num: 119548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.553G>A
  hgvsp: ENSP00000428114.1:p.Arg185Gln
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3197G>A
  hgvsp: ENSP00000444865.1:p.Arg1066Gln
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.995G>A
  hgvsp: ENSP00000429855.1:p.Arg332Gln
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3197G>A
  hgvsp: ENSP00000348645.4:p.Arg1066Gln
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1066Gln
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-52320992-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320992
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320992
    reference: chr 8
allele count: 18
allele frequency: 1.508447304907482e-4
allele num: 119328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.548T>G
  hgvsp: ENST00000522933.1:c.548T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3192T>G
  hgvsp: ENST00000543296.1:c.3192T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.990T>G
  hgvsp: ENST00000522628.1:c.990T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3192T>G
  hgvsp: ENST00000356297.4:c.3192T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42692
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11157
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.75e1
  variant carriers: 18
hgvs: p.Leu1064Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

8-52320999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52320999
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52320999
    reference: chr 8
allele count: 2
allele frequency: 1.68123739071957e-5
allele num: 118960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3185C>T
  hgvsp: ENSP00000444865.1:p.Pro1062Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.983C>T
  hgvsp: ENSP00000429855.1:p.Pro328Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3185C>T
  hgvsp: ENSP00000348645.4:p.Pro1062Leu
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.541C>T
  hgvsp: ENSP00000428114.1:p.Pro181Leu
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41977
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1062Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-52321007-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52321007
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52321007
    reference: chr 8
allele count: 30
allele frequency: 2.531004808909137e-4
allele num: 118530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000444865
  ensembl transcript: ENST00000543296
  gene symbol: PXDNL
  hgvsc: ENST00000543296.1:c.3177A>G
  hgvsp: ENST00000543296.1:c.3177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000348645
  ensembl transcript: ENST00000356297
  gene symbol: PXDNL
  hgvsc: ENST00000356297.4:c.3177A>G
  hgvsp: ENST00000356297.4:c.3177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000428114
  ensembl transcript: ENST00000522933
  gene symbol: PXDNL
  hgvsc: ENST00000522933.1:c.533A>G
  hgvsp: ENST00000522933.1:c.533A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147485
  ensembl protein: ENSP00000429855
  ensembl transcript: ENST00000522628
  gene symbol: PXDNL
  hgvsc: ENST00000522628.1:c.975A>G
  hgvsp: ENST00000522628.1:c.975A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40973
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10894
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1059Leu
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3110
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.660302174995849e-5
allele num: 60230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12270
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e-1

DP
type: SiteQuality
SIO_000300: 1.264171e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0288e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

QD
type: SiteQuality
SIO_000300: 1.225e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.475e0

MQRankSum
type: SiteQuality
SIO_000300: -1.052e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.156e0

GenotypeQuality
all individuals: 44958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.262287951283167e-4
allele num: 9196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643007360672976e-5
allele num: 60864
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.473285335354301e-5
allele num: 10556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.086e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 1.278494e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

GenotypeQuality
all individuals: 678
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 859
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 24
allele frequency: 2.588438308886971e-3
allele num: 9272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.137491048759847e-5
allele num: 61444
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

FS
type: SiteQuality
SIO_000300: 4.135e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.759e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.291144e6

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
all individuals: 219
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2359
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15092
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.81057268722467e-5
allele num: 11350
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 2.498958767180342e-3
allele num: 9604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551927493947483e-5
allele num: 64436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

QD
type: SiteQuality
SIO_000300: 1.705e1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 1.3572e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 22
allele frequency: 2.263374485596708e-3
allele num: 9720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.624e0

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.383894e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3867
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 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: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

FS
type: SiteQuality
SIO_000300: 2.478e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.401939e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.509e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.043e0

MQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e-1

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.4690632561355e-3
allele num: 11572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 63
allele frequency: 9.525249470819473e-3
allele num: 6614
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 2.232142857142857e-3
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.042483660130719e-4
allele num: 9792
num of homozygotes: 0

South Asian
type: Population
allele count: 31
allele frequency: 1.877422480620155e-3
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 190
allele frequency: 2.849173739615512e-3
allele num: 66686
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

QD
type: SiteQuality
SIO_000300: 1.385e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.430234e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

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

GenotypeQuality
all individuals: 162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52921
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.938e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

DP
type: SiteQuality
SIO_000300: 1.407089e6

QD
type: SiteQuality
SIO_000300: 1.332e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 2.961e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
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: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 1.407327e6

QD
type: SiteQuality
SIO_000300: 1.383e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 4.123e0

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 52938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 7.75e1
variant carriers: 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: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.853e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.599e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.407117e6

QD
type: SiteQuality
SIO_000300: 1.569e1

GenotypeQuality
all individuals: 1053
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
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: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 8.609e0

QD
type: SiteQuality
SIO_000300: 1.277e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.407179e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

GenotypeQuality
all individuals: 3920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 16512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

DP
type: SiteQuality
SIO_000300: 1.407103e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.337e1

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.25e1
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: 11576
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: 66702
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
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: 4.26e-1

DP
type: SiteQuality
SIO_000300: 1.407187e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.184e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

QD
type: SiteQuality
SIO_000300: 1.436e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52917
bin: 6.25e1
variant carriers: 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: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 9800
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 1.235e0

DP
type: SiteQuality
SIO_000300: 1.407014e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 8.73e0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3912
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.407011e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -2.819e0

FS
type: SiteQuality
SIO_000300: 8.359999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.039e0

GenotypeQuality
all individuals: 1048
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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: 6614
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: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

QD
type: SiteQuality
SIO_000300: 1.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 4.299e0

DP
type: SiteQuality
SIO_000300: 1.406649e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.393e0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52843
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 7.77e-1

DP
type: SiteQuality
SIO_000300: 1.406235e6

FS
type: SiteQuality
SIO_000300: 5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
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: 11576
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: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.788e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.137e0

QD
type: SiteQuality
SIO_000300: 1.036e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.301e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 1.405823e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 898
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.467e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.788e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 6.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.319e1

MQ
type: SiteQuality
SIO_000300: 5.884e1

DP
type: SiteQuality
SIO_000300: 1.404946e6

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 857
bin: 7.75e1
variant carriers: 0

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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 1.222e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.09e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.35e-1

DP
type: SiteQuality
SIO_000300: 1.400676e6

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3819
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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: 6614
num of homozygotes: 0

African
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: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 1.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

DP
type: SiteQuality
SIO_000300: 1.400528e6

QD
type: SiteQuality
SIO_000300: 1.336e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

GenotypeQuality
all individuals: 700
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1024
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 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: 66644
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
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: 6.5e-2

FS
type: SiteQuality
SIO_000300: 1.106e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.400528e6

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 1.336e1

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 432
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 73
allele frequency: 6.306150656530753e-3
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.554054459755622e-4
allele num: 66618
num of homozygotes: 0

African
type: Population
allele count: 692
allele frequency: 7.069881487535758e-2
allele num: 9788
num of homozygotes: 22

Other
type: Population
allele count: 3
allele frequency: 3.34075723830735e-3
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

VQSLOD
type: SiteQuality
SIO_000300: 6.36e0

DP
type: SiteQuality
SIO_000300: 1.472254e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

South Asian
type: Population
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: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

FS
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 1.3998e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.233e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.871e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.062e0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 647
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

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: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502881844380403e-5
allele num: 66624
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

DP
type: SiteQuality
SIO_000300: 1.399487e6

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 52573
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 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: 66632
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.844961240310077e-4
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.399645e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.059e1

VQSLOD
type: SiteQuality
SIO_000300: 9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

FS
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

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

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52571
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
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: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.588e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.174e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.399226e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.014e1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

DP
type: SiteQuality
SIO_000300: 1.399152e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.56e-1

FS
type: SiteQuality
SIO_000300: 1.042e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.065603923973023e-4
allele num: 9786
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

DP
type: SiteQuality
SIO_000300: 1.399852e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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 (Non-Finnish)
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allele count: 5
allele frequency: 7.505028369007235e-5
allele num: 66622
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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

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: 8624
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.94e-2

DP
type: SiteQuality
SIO_000300: 1.39882e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.123e1

FS
type: SiteQuality
SIO_000300: 2.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.326e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.993e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 1.492e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.915e1

DP
type: SiteQuality
SIO_000300: 1.398659e6

QD
type: SiteQuality
SIO_000300: 1.273e1

MQRankSum
type: SiteQuality
SIO_000300: 7.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.264e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.353e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.892e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.448e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

DP
type: SiteQuality
SIO_000300: 1.398011e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
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African
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allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

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

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

Other
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allele num: 898
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 325

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: 8624
num of homozygotes: 0

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

Latino
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allele count: 18
allele frequency: 1.554941257774706e-3
allele num: 11576
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

African
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allele count: 9
allele frequency: 9.202453987730061e-4
allele num: 9780
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Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 293
allele frequency: 4.402440123809238e-3
allele num: 66554
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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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African
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Latino
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num of homozygotes: 0

Other
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.004807692307692e-5
allele num: 66560
num of homozygotes: 0

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

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

South Asian
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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: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

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

Other
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European (Finnish)
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East Asian
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 1.502584445245823e-5
allele num: 66552
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 1.023122570083896e-4
allele num: 9774
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.010157165609881e-5
allele num: 66554
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: 898
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.424e0

QD
type: SiteQuality
SIO_000300: 1.387e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 1.398187e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52276
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.75e1
variant carriers: 2

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: 9770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005349522149426e-5
allele num: 66548
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.322e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

FS
type: SiteQuality
SIO_000300: 4.28e-1

DP
type: SiteQuality
SIO_000300: 1.399262e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 3827
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 7.75e1
variant carriers: 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: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
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

FS
type: SiteQuality
SIO_000300: 5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.984e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 1.399635e6

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.399635e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.984e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 447
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

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: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.91e-1

DP
type: SiteQuality
SIO_000300: 1.399542e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.328e0

QD
type: SiteQuality
SIO_000300: 1.652e1

VQSLOD
type: SiteQuality
SIO_000300: -6.984e-1

FS
type: SiteQuality
SIO_000300: 5.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 850
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variant carriers: 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: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
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: 18
allele frequency: 2.087198515769944e-3
allele num: 8624
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.409e1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

FS
type: SiteQuality
SIO_000300: 2.573e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.40095e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 52421
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.352651196344836e-4
allele num: 66536
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.400878e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.643e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

QD
type: SiteQuality
SIO_000300: 1.433e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

GenotypeQuality
all individuals: 121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.328e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.363e0

VQSLOD
type: SiteQuality
SIO_000300: -3.019e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.57e-1

DP
type: SiteQuality
SIO_000300: 1.400631e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 2
allele frequency: 2.045408058907752e-4
allele num: 9778
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: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.401299e6

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

FS
type: SiteQuality
SIO_000300: 3.563e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-1

QD
type: SiteQuality
SIO_000300: 8.31e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
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GenotypeQuality
all individuals: 628
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 1
allele frequency: 1.02291325695581e-4
allele num: 9776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

DP
type: SiteQuality
SIO_000300: 1.401308e6

MQ
type: SiteQuality
SIO_000300: 6.029e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.576e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
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GenotypeQuality
all individuals: 36
bin: 5.75e1
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: 9776
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 4.139e0

DP
type: SiteQuality
SIO_000300: 1.402003e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

QD
type: SiteQuality
SIO_000300: 1.11e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 845
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variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 4.139e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.402003e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
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variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 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: 66518
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.73e-1

DP
type: SiteQuality
SIO_000300: 1.401745e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e0

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
all individuals: 1043
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
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: 898
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: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.727e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.095e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

DP
type: SiteQuality
SIO_000300: 1.402335e6

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3908
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

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: 3
allele frequency: 4.509108398965911e-5
allele num: 66532
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.374e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.67e-1

FS
type: SiteQuality
SIO_000300: 1.129e0

DP
type: SiteQuality
SIO_000300: 1.402611e6

GenotypeQuality
all individuals: 448
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

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: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.412e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.527e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 1.012e0

DP
type: SiteQuality
SIO_000300: 1.403073e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

GenotypeQuality
all individuals: 447
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 9784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.1186e1

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.403113e6

VQSLOD
type: SiteQuality
SIO_000300: -1.547e0

QD
type: SiteQuality
SIO_000300: 1.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.597e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.92e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3924
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 9782
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -6.408e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.49e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.117e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.724e0

FS
type: SiteQuality
SIO_000300: 8.597e0

DP
type: SiteQuality
SIO_000300: 1.403117e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
all individuals: 627
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

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

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: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.09e-1

FS
type: SiteQuality
SIO_000300: 1.01334e2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -1.135e1

QD
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.40339e6

GenotypeQuality
all individuals: 52566
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
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: 11566
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

South Asian
type: Population
allele count: 76
allele frequency: 4.603828446813666e-3
allele num: 16508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

DP
type: SiteQuality
SIO_000300: 1.407881e6

GenotypeQuality
all individuals: 195
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.26920281075842e-4
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
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: 66536
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.407881e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

QD
type: SiteQuality
SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.226e1

FS
type: SiteQuality
SIO_000300: 2.772e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.40439e6

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 7.25e1
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GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 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: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.151e1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.421e0

MQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

FS
type: SiteQuality
SIO_000300: 4.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

DP
type: SiteQuality
SIO_000300: 1.404522e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 53
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GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 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: 3
allele frequency: 4.508024283224139e-5
allele num: 66548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
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: 16508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.58e-1

DP
type: SiteQuality
SIO_000300: 1.405152e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 436
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.82e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.239e0

MQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.801e1

VQSLOD
type: SiteQuality
SIO_000300: -2.851e0

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 count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

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

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

African
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allele count: 1
allele frequency: 1.022076860179886e-4
allele num: 9784
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.766e1

QD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.225e0

VQSLOD
type: SiteQuality
SIO_000300: -1.007e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.79e-1

DP
type: SiteQuality
SIO_000300: 1.40542e6

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

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

African
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allele frequency: 0.0e0
allele num: 9782
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Other
type: Population
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.684e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.405658e6

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.224e0

FS
type: SiteQuality
SIO_000300: 1.843e0

QD
type: SiteQuality
SIO_000300: 6.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.82e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: -2.395e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 1.405718e6

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9774
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.38e1

FS
type: SiteQuality
SIO_000300: 2.659e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

DP
type: SiteQuality
SIO_000300: 1.405493e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.404114e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

FS
type: SiteQuality
SIO_000300: 1.4403e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -2.59e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.73e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.581e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.403705e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.0275380189067e-4
allele num: 9732
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11474
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South Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.893e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.396359e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16392
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.024437454633438e-5
allele num: 66128
num of homozygotes: 0

African
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allele count: 0
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 1.513683700653911e-5
allele num: 66064
num of homozygotes: 0

Other
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FS
type: SiteQuality
SIO_000300: 3.012e0

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

East Asian
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allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Finnish)
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Other
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African
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Latino
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allele frequency: 1.757469244288225e-4
allele num: 11380
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.274243435017284e-4
allele num: 65956
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.041270034366351e-5
allele num: 65762
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European (Finnish)
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Other
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Latino
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allele frequency: 0.0e0
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South Asian
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FS
type: SiteQuality
SIO_000300: 7.1e-1

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