8-38125993-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38125993
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38125992
    reference: chr 8
allele count: 1
allele frequency: 3.866676977805274e-5
allele num: 25862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.184-15delG
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.181-69delG
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.61-15delG
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2646delC
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+406delG
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4894delC
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.184-15delG
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.620delG
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-213-15delG
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.184-15delG
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.117+347delG
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.165-15delG
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: TC
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-38126007-CAATCCAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126007
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38125999
    reference: chr 8
allele count: 5
allele frequency: 2.130560763592978e-4
allele num: 23468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.599_606delTTTGGATT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32463
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: CAATCCAAA
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-38126012-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126012
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126013
    reference: chr 8
allele count: 8
allele frequency: 3.659652333028362e-4
allele num: 21860
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.184-34dupT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2620dupA
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.61-34dupT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4868dupA
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-213-34dupT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.117+328dupT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.165-34dupT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.184-34dupT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+387dupT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.601dupT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.181-88dupT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.184-34dupT
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10215
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32294
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/8-38126012-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126012
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126011
    reference: chr 8
allele count: 17
allele frequency: 7.776761207685269e-4
allele num: 21860
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.184-34delT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.601delT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.165-34delT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.117+328delT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.181-88delT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.184-34delT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+387delT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.61-34delT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4868delA
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.184-34delT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2620delA
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-213-34delT
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10215
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 32294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: CA
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

8-38126351-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126351
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126351
    reference: chr 8
allele count: 5
allele frequency: 9.713641838598127e-5
allele num: 51474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+49C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+49C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4537G>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+49C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.263C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-224C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.278C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2289G>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+49C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+49C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.107C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+49C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+49C>G
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26511
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16641
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

8-38126358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126358
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126358
    reference: chr 8
allele count: 1
allele frequency: 1.907960009158208e-5
allele num: 52412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4530C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+42G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+42G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+42G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.256G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+42G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+42G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.100G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2282C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+42G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-231G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.271G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+42G>A
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16890
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26616
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-38126359-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126359
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126359
    reference: chr 8
allele count: 15256
allele frequency: 2.652110423475419e-1
allele num: 57524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+41C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+41C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-232C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.270C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4529G>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+41C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+41C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+41C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.99C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.255C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2281G>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+41C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+41C>G
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 2.5e0
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 24311
  bin: 7.5e0
  variant carriers: 6020
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.25e1
  variant carriers: 1088
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 1.75e1
  variant carriers: 3348
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 18005
  bin: 1.25e1
  variant carriers: 7712
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.25e1
  variant carriers: 258
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
num of homozygotes: 1706
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

8-38126365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126365
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126365
    reference: chr 8
allele count: 3
allele frequency: 4.912073877591119e-5
allele num: 61074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+35A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.249A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+35A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+35A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+35A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+35A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-238A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.93A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.264A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2275T>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+35A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4523T>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+35A>G
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17795
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

8-38126367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126367
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126367
    reference: chr 8
allele count: 2
allele frequency: 3.25796572620056e-5
allele num: 61388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+33C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+33C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.91C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4521G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+33C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2273G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-240C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+33C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+33C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.262C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+33C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+33C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.247C>T
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17558
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

8-38126369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126369
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126369
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 62296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+31C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+31C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.245C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.89C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+31C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+31C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+31C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-242C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.260C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+31C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+31C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4519G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2271G>A
  variant of: http://identifiers.org/hgnc/29106
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 24755
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-38126370-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126370
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126370
    reference: chr 8
allele count: 2
allele frequency: 3.201639239290517e-5
allele num: 62468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+30T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+30T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+30T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.259T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+30T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4518A>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+30T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2270A>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.244T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.88T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-243T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+30T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+30T>C
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17073
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

8-38126372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126372
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126372
    reference: chr 8
allele count: 1
allele frequency: 1.578880889225717e-5
allele num: 63336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+28C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.242C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.257C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+28C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+28C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+28C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+28C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2268G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.86C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-245C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4516G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+28C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+28C>T
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

8-38126377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126377
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126377
    reference: chr 8
allele count: 68
allele frequency: 1.024435807044503e-3
allele num: 66378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+23T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4511A>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+23T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+23T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+23T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.252T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.237T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+23T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.81T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+23T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-250T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2263A>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+23T>C
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14845
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 11938
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 24185
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

8-38126379-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126379
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126379
    reference: chr 8
allele count: 1
allele frequency: 1.477017606049864e-5
allele num: 67704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2261A>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4509A>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+21T>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-252T>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+21T>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+21T>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.250T>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.79T>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+21T>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+21T>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.235T>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+21T>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+21T>A
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13854
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-38126382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126382
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126382
    reference: chr 8
allele count: 1
allele frequency: 1.440922190201729e-5
allele num: 69400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2258C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+18G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.247G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.232G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+18G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+18G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+18G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4506C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.76G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+18G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-255G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+18G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+18G>A
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

8-38126384-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126384
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126384
    reference: chr 8
allele count: 3
allele frequency: 4.19298932185386e-5
allele num: 71548
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+16T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4504A>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+16T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.74T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.230T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-257T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2256A>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+16T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+16T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+16T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.245T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+16T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+16T>C
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17879
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

8-38126389-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126389
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126389
    reference: chr 8
allele count: 1
allele frequency: 1.328974297637084e-5
allele num: 75246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+11A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+11A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-262A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+11A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.69A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2251T>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.240A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.225A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+11A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+11A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+11A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+11A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4499T>A
  variant of: http://identifiers.org/hgnc/29106
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

8-38126390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126390
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126390
    reference: chr 8
allele count: 4
allele frequency: 5.27328815883144e-5
allele num: 75854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.68G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.224G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4498C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+10G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+10G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2250C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+10G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.239G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+10G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+10G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+10G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-263G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+10G>A
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20797
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-38126395-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126395
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126395
    reference: chr 8
allele count: 2
allele frequency: 2.486510679563369e-5
allele num: 80434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.234G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.164+5G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.159+5G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.219G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4493C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-268G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2245C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.183+5G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.183+5G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.60+5G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.63G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.180+5G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.183+5G>A
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25357
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.183+5G>A
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-38126412-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126412
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126412
    reference: chr 8
allele count: 1
allele frequency: 1.184525360687972e-5
allele num: 84422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.202C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.147C>G
  hgvsp: ENST00000531109.1:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.171C>G
  hgvsp: ENST00000424479.2:c.171C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.152C>G
  hgvsp: ENST00000534339.1:c.152C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.48C>G
  hgvsp: ENST00000529359.1:c.48C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2228G>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.217C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-285C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.168C>G
  hgvsp: ENST00000524616.1:c.168C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.171C>G
  hgvsp: ENST00000422581.2:c.171C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4476G>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.171C>G
  hgvsp: ENST00000419686.2:c.171C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.46C>G
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr57Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

8-38126412-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126412
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126412
    reference: chr 8
allele count: 83
allele frequency: 9.83156049371017e-4
allele num: 84422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.171C>A
  hgvsp: ENST00000422581.2:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.217C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.147C>A
  hgvsp: ENST00000531109.1:c.147C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.171C>A
  hgvsp: ENST00000419686.2:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2228G>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.168C>A
  hgvsp: ENST00000524616.1:c.168C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.202C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.48C>A
  hgvsp: ENST00000529359.1:c.48C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.171C>A
  hgvsp: ENST00000424479.2:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.152C>A
  hgvsp: ENST00000534339.1:c.152C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-285C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.46C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4476G>T
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25240
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Thr57Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

8-38126412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126412
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126412
    reference: chr 8
allele count: 1
allele frequency: 1.184525360687972e-5
allele num: 84422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2228G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.202C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.168C>T
  hgvsp: ENST00000524616.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-285C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.171C>T
  hgvsp: ENST00000419686.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.152C>T
  hgvsp: ENST00000534339.1:c.152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4476G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.147C>T
  hgvsp: ENST00000531109.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.217C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.48C>T
  hgvsp: ENST00000529359.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.46C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.171C>T
  hgvsp: ENST00000424479.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.171C>T
  hgvsp: ENST00000422581.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr57Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

8-38126413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126413
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126413
    reference: chr 8
allele count: 1
allele frequency: 1.130224462578268e-5
allele num: 88478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.201C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2227G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.47C>T
  hgvsp: ENSP00000434916.1:p.Thr16Ile
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.146C>T
  hgvsp: ENSP00000434555.1:p.Thr49Ile
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.216C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.151C>T
  hgvsp: ENSP00000431771.1:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.170C>T
  hgvsp: ENSP00000390622.2:p.Thr57Ile
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4475G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-286C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.170C>T
  hgvsp: ENSP00000392553.2:p.Thr57Ile
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.45C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.170C>T
  hgvsp: ENSP00000414522.2:p.Thr57Ile
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.167C>T
  hgvsp: ENSP00000432122.1:p.Thr56Ile
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr57Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

8-38126414-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126414
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126414
    reference: chr 8
allele count: 8
allele frequency: 9.344702721644668e-5
allele num: 85610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.166A>C
  hgvsp: ENSP00000432122.1:p.Thr56Pro
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.46A>C
  hgvsp: ENSP00000434916.1:p.Thr16Pro
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.169A>C
  hgvsp: ENSP00000392553.2:p.Thr57Pro
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4474T>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.145A>C
  hgvsp: ENSP00000434555.1:p.Thr49Pro
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.200A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.44A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.150A>C
  hgvsp: ENSP00000431771.1:p.Thr51Pro
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.169A>C
  hgvsp: ENSP00000414522.2:p.Thr57Pro
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2226T>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.215A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-287A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.169A>C
  hgvsp: ENSP00000390622.2:p.Thr57Pro
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23637
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr57Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

8-38126416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126416
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126416
    reference: chr 8
allele count: 137
allele frequency: 1.518375670523562e-3
allele num: 90228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.148C>T
  hgvsp: ENSP00000431771.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.44C>T
  hgvsp: ENSP00000434916.1:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.167C>T
  hgvsp: ENSP00000414522.2:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.213C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.167C>T
  hgvsp: ENSP00000390622.2:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.198C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.167C>T
  hgvsp: ENSP00000392553.2:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-289C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.143C>T
  hgvsp: ENSP00000434555.1:p.Pro48Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.42C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4472G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.164C>T
  hgvsp: ENSP00000432122.1:p.Pro55Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2224G>A
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14143
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24777
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro56Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

8-38126416-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126416
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126416
    reference: chr 8
allele count: 3
allele frequency: 3.32491022742386e-5
allele num: 90228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.164C>A
  hgvsp: ENSP00000432122.1:p.Pro55His
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-289C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.44C>A
  hgvsp: ENSP00000434916.1:p.Pro15His
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.167C>A
  hgvsp: ENSP00000392553.2:p.Pro56His
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.198C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.143C>A
  hgvsp: ENSP00000434555.1:p.Pro48His
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.167C>A
  hgvsp: ENSP00000390622.2:p.Pro56His
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2224G>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.148C>A
  hgvsp: ENSP00000431771.1:p.Pro50His
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4472G>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.213C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.167C>A
  hgvsp: ENSP00000414522.2:p.Pro56His
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.42C>A
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14143
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro56His
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-38126417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126417
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126417
    reference: chr 8
allele count: 1
allele frequency: 1.103777125322855e-5
allele num: 90598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.163C>T
  hgvsp: ENSP00000432122.1:p.Pro55Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.43C>T
  hgvsp: ENSP00000434916.1:p.Pro15Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.166C>T
  hgvsp: ENSP00000392553.2:p.Pro56Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.142C>T
  hgvsp: ENSP00000434555.1:p.Pro48Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-290C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.41C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.166C>T
  hgvsp: ENSP00000390622.2:p.Pro56Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.212C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.166C>T
  hgvsp: ENSP00000414522.2:p.Pro56Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.147C>T
  hgvsp: ENSP00000431771.1:p.Pro50Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2223G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.197C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4471G>A
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14030
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro56Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

8-38126418-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126418
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126418
    reference: chr 8
allele count: 1
allele frequency: 1.100715465052284e-5
allele num: 90850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.42C>T
  hgvsp: ENST00000529359.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.165C>T
  hgvsp: ENST00000424479.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.196C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.165C>T
  hgvsp: ENST00000422581.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4470G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.146C>T
  hgvsp: ENST00000534339.1:c.146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.165C>T
  hgvsp: ENST00000419686.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.141C>T
  hgvsp: ENST00000531109.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.211C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-291C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.162C>T
  hgvsp: ENST00000524616.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.40C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2222G>A
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe55Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

8-38126422-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126422
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126422
    reference: chr 8
allele count: 1
allele frequency: 1.090845623527358e-5
allele num: 91672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.207A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.161A>G
  hgvsp: ENSP00000392553.2:p.Tyr54Cys
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.161A>G
  hgvsp: ENSP00000414522.2:p.Tyr54Cys
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.137A>G
  hgvsp: ENSP00000434555.1:p.Tyr46Cys
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4466T>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.161A>G
  hgvsp: ENSP00000390622.2:p.Tyr54Cys
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.142A>G
  hgvsp: ENSP00000431771.1:p.Tyr48Cys
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.192A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2218T>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.158A>G
  hgvsp: ENSP00000432122.1:p.Tyr53Cys
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.36A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-295A>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.38A>G
  hgvsp: ENSP00000434916.1:p.Tyr13Cys
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr54Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/8-38126426-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126426
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126426
    reference: chr 8
allele count: 2
allele frequency: 2.148781640809661e-5
allele num: 93076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.157G>T
  hgvsp: ENSP00000390622.2:p.Glu53Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.32G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.188G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-299G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.203G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.34G>T
  hgvsp: ENSP00000434916.1:p.Glu12Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.157G>T
  hgvsp: ENSP00000392553.2:p.Glu53Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2214C>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.154G>T
  hgvsp: ENSP00000432122.1:p.Glu52Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.157G>T
  hgvsp: ENSP00000414522.2:p.Glu53Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.133G>T
  hgvsp: ENSP00000434555.1:p.Glu45Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.138G>T
  hgvsp: ENSP00000431771.1:p.Glu47Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4462C>A
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu53Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

8-38126428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126428
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126428
    reference: chr 8
allele count: 2
allele frequency: 2.131060202450719e-5
allele num: 93850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.186C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.32C>T
  hgvsp: ENSP00000434916.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-301C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.201C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.155C>T
  hgvsp: ENSP00000392553.2:p.Ala52Val
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.155C>T
  hgvsp: ENSP00000414522.2:p.Ala52Val
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4460G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.155C>T
  hgvsp: ENSP00000390622.2:p.Ala52Val
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.136C>T
  hgvsp: ENSP00000431771.1:p.Ala46Val
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.152C>T
  hgvsp: ENSP00000432122.1:p.Ala51Val
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.30C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.131C>T
  hgvsp: ENSP00000434555.1:p.Ala44Val
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2212G>A
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27134
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala52Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

8-38126429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126429
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126429
    reference: chr 8
allele count: 1
allele frequency: 1.059658789869662e-5
allele num: 94370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4459C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.151G>A
  hgvsp: ENSP00000432122.1:p.Ala51Thr
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.154G>A
  hgvsp: ENSP00000390622.2:p.Ala52Thr
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.31G>A
  hgvsp: ENSP00000434916.1:p.Ala11Thr
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.135G>A
  hgvsp: ENSP00000431771.1:p.Ala46Thr
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.130G>A
  hgvsp: ENSP00000434555.1:p.Ala44Thr
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.29G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.200G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2211C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.185G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.154G>A
  hgvsp: ENSP00000392553.2:p.Ala52Thr
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-302G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.154G>A
  hgvsp: ENSP00000414522.2:p.Ala52Thr
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala52Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

8-38126435-CGTAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126435
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126431
    reference: chr 8
allele count: 1
allele frequency: 1.044604617152408e-5
allele num: 95730
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.144_147delCTAC
  hgvsp: ENSP00000390622.2:p.Tyr49TrpfsTer22
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2203_88-2200delTAGG
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4451_138-4448delTAGG
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-312_-309delCTAC
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.144_147delCTAC
  hgvsp: ENSP00000414522.2:p.Tyr49TrpfsTer22
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.175_178delCTAC
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.190_193delCTAC
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.144_147delCTAC
  hgvsp: ENSP00000392553.2:p.Tyr49TrpfsTer22
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.141_144delCTAC
  hgvsp: ENSP00000432122.1:p.Tyr48TrpfsTer32
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.120_123delCTAC
  hgvsp: ENSP00000434555.1:p.Tyr41TrpfsTer45
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.125_128delCTAC
  hgvsp: ENSP00000431771.1:p.Tyr43TrpfsTer22
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.19_22delCTAC
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.21_24delCTAC
  hgvsp: ENSP00000434916.1:p.Tyr8TrpfsTer22
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr49TrpfsTer22
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: CGTAG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-38126441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126441
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126441
    reference: chr 8
allele count: 1
allele frequency: 1.028997139387952e-5
allele num: 97182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.118C>T
  hgvsp: ENSP00000434555.1:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.19C>T
  hgvsp: ENSP00000434916.1:p.Pro7Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.123C>T
  hgvsp: ENSP00000431771.1:p.Pro42Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000527793
  gene symbol: PPAPDC1B
  hgvsc: ENST00000527793.1:n.17C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.142C>T
  hgvsp: ENSP00000392553.2:p.Pro48Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.142C>T
  hgvsp: ENSP00000390622.2:p.Pro48Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.139C>T
  hgvsp: ENSP00000432122.1:p.Pro47Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-314C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4447G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.142C>T
  hgvsp: ENSP00000414522.2:p.Pro48Ser
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.188C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.173C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2199G>A
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro48Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

8-38126460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126460
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126460
    reference: chr 8
allele count: 2
allele frequency: 2.033553634977122e-5
allele num: 98350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.123G>A
  hgvsp: ENST00000424479.2:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.169G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.104G>A
  hgvsp: ENST00000534339.1:c.104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2180C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-333G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.99G>A
  hgvsp: ENST00000531109.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4428C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.123G>A
  hgvsp: ENST00000419686.2:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.120G>A
  hgvsp: ENST00000524616.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.123G>A
  hgvsp: ENST00000422581.2:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.154G>A
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29736
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu41Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

8-38126469-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126469
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126469
    reference: chr 8
allele count: 12
allele frequency: 1.217433649866082e-4
allele num: 98568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2171C>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.114G>C
  hgvsp: ENSP00000390622.2:p.Gln38His
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.114G>C
  hgvsp: ENSP00000392553.2:p.Gln38His
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4419C>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-10G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.111G>C
  hgvsp: ENSP00000432122.1:p.Gln37His
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.90G>C
  hgvsp: ENSP00000434555.1:p.Gln30His
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-342G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.114G>C
  hgvsp: ENSP00000414522.2:p.Gln38His
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.160G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.145G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.95G>C
  hgvsp: ENSP00000431771.1:p.Gln32His
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30013
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln38His
num of homozygotes: 1
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

8-38126471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126471
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126471
    reference: chr 8
allele count: 2
allele frequency: 2.018733850129199e-5
allele num: 99072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.112C>T
  hgvsp: ENSP00000414522.2:p.Gln38Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.109C>T
  hgvsp: ENSP00000432122.1:p.Gln37Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-344C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.88C>T
  hgvsp: ENSP00000434555.1:p.Gln30Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.158C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4417G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.112C>T
  hgvsp: ENSP00000392553.2:p.Gln38Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.143C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.93C>T
  hgvsp: ENSP00000431771.1:p.Gln32Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.112C>T
  hgvsp: ENSP00000390622.2:p.Gln38Ter
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2169G>A
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln38Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

8-38126477-G-GTCTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126477
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126481
    reference: chr 8
allele count: 84
allele frequency: 8.580534444716843e-4
allele num: 97896
alternate allele: GTCTC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.102_105dupGAGA
  hgvsp: ENSP00000390622.2:p.Leu36GlufsTer91
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4409_138-4406dupCTCT
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.83_86dupGAGA
  hgvsp: ENSP00000431771.1:p.Leu30GlufsTer91
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-22_-19dupGAGA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-354_-351dupGAGA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.102_105dupGAGA
  hgvsp: ENSP00000414522.2:p.Leu36GlufsTer91
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.78_81dupGAGA
  hgvsp: ENSP00000434555.1:p.Leu28GlufsTer?
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.133_136dupGAGA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2161_88-2158dupCTCT
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.99_102dupGAGA
  hgvsp: ENSP00000432122.1:p.Leu35GlufsTer28
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.102_105dupGAGA
  hgvsp: ENSP00000392553.2:p.Leu36GlufsTer91
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.148_151dupGAGA
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29134
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 11035
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu36GlufsTer91
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

8-38126479-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126479
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126479
    reference: chr 8
allele count: 2
allele frequency: 2.057443831783392e-5
allele num: 97208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-20G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.80G>C
  hgvsp: ENSP00000434555.1:p.Arg27Thr
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.104G>C
  hgvsp: ENSP00000390622.2:p.Arg35Thr
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.150G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.85G>C
  hgvsp: ENSP00000431771.1:p.Arg29Thr
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4409C>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.101G>C
  hgvsp: ENSP00000432122.1:p.Arg34Thr
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-352G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.104G>C
  hgvsp: ENSP00000392553.2:p.Arg35Thr
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.104G>C
  hgvsp: ENSP00000414522.2:p.Arg35Thr
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2161C>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.135G>C
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg35Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

8-38126482-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126482
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126482
    reference: chr 8
allele count: 1
allele frequency: 1.03534673762243e-5
allele num: 96586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.98A>T
  hgvsp: ENSP00000432122.1:p.Gln33Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.101A>T
  hgvsp: ENSP00000414522.2:p.Gln34Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4406T>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-23A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.101A>T
  hgvsp: ENSP00000390622.2:p.Gln34Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.82A>T
  hgvsp: ENSP00000431771.1:p.Gln28Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2158T>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.77A>T
  hgvsp: ENSP00000434555.1:p.Gln26Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-355A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.147A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.132A>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.101A>T
  hgvsp: ENSP00000392553.2:p.Gln34Leu
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln34Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

8-38126487-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126487
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126488
    reference: chr 8
allele count: 2
allele frequency: 2.128837229105463e-5
allele num: 93948
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.95dupC
  hgvsp: ENSP00000390622.2:p.Phe33ValfsTer93
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-29dupC
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-361dupC
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.141dupC
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.71dupC
  hgvsp: ENSP00000434555.1:p.Phe25ValfsTer?
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.92dupC
  hgvsp: ENSP00000432122.1:p.Phe32ValfsTer30
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.76dupC
  hgvsp: ENSP00000431771.1:p.Phe27ValfsTer93
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4395dupG
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.95dupC
  hgvsp: ENSP00000392553.2:p.Phe33ValfsTer93
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.126dupC
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.95dupC
  hgvsp: ENSP00000414522.2:p.Phe33ValfsTer93
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2147dupG
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24645
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe33ValfsTer93
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

8-38126487-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126487
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126486
    reference: chr 8
allele count: 1
allele frequency: 1.064418614552731e-5
allele num: 93948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-29delC
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.76delC
  hgvsp: ENSP00000431771.1:p.Pro26ArgfsTer40
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.141delC
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2147delG
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.95delC
  hgvsp: ENSP00000392553.2:p.Pro32ArgfsTer40
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-361delC
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.95delC
  hgvsp: ENSP00000414522.2:p.Pro32ArgfsTer40
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.95delC
  hgvsp: ENSP00000390622.2:p.Pro32ArgfsTer40
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.71delC
  hgvsp: ENSP00000434555.1:p.Pro24ArgfsTer63
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.126delC
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.92delC
  hgvsp: ENSP00000432122.1:p.Pro31ArgfsTer50
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4395delG
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro32ArgfsTer40
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: CG
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

8-38126489-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126489
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126489
    reference: chr 8
allele count: 1
allele frequency: 1.074968288435491e-5
allele num: 93026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2151G>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.94C>G
  hgvsp: ENSP00000414522.2:p.Pro32Ala
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.94C>G
  hgvsp: ENSP00000392553.2:p.Pro32Ala
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.91C>G
  hgvsp: ENSP00000432122.1:p.Pro31Ala
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.125C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.75C>G
  hgvsp: ENSP00000431771.1:p.Pro26Ala
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.70C>G
  hgvsp: ENSP00000434555.1:p.Pro24Ala
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4399G>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.94C>G
  hgvsp: ENSP00000390622.2:p.Pro32Ala
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.140C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-362C>G
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23432
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro32Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

8-38126493-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126493
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126493
    reference: chr 8
allele count: 2
allele frequency: 2.220150082145553e-5
allele num: 90084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.90C>A
  hgvsp: ENST00000419686.2:c.90C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.121C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.87C>A
  hgvsp: ENST00000524616.1:c.87C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.66C>A
  hgvsp: ENST00000531109.1:c.66C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4395G>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.90C>A
  hgvsp: ENST00000422581.2:c.90C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.71C>A
  hgvsp: ENST00000534339.1:c.71C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.136C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.90C>A
  hgvsp: ENST00000424479.2:c.90C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-34C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-366C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2147G>T
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20175
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu30Leu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

8-38126496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126496
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126496
    reference: chr 8
allele count: 1
allele frequency: 1.137915339098771e-5
allele num: 87880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.87G>A
  hgvsp: ENST00000422581.2:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.68G>A
  hgvsp: ENST00000534339.1:c.68G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.63G>A
  hgvsp: ENST00000531109.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.87G>A
  hgvsp: ENST00000419686.2:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.118G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.87G>A
  hgvsp: ENST00000424479.2:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-369G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.133G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4392C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2144C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.84G>A
  hgvsp: ENST00000524616.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu29Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

8-38126502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126502
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126502
    reference: chr 8
allele count: 1
allele frequency: 1.196544379831048e-5
allele num: 83574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.57G>A
  hgvsp: ENST00000531109.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4386C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-375G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2138C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.81G>A
  hgvsp: ENST00000422581.2:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.62G>A
  hgvsp: ENST00000534339.1:c.62G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.78G>A
  hgvsp: ENST00000524616.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.81G>A
  hgvsp: ENST00000419686.2:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.112G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.81G>A
  hgvsp: ENST00000424479.2:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.127G>A
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14295
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr27Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

8-38126503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126503
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126503
    reference: chr 8
allele count: 4
allele frequency: 4.844961240310077e-5
allele num: 82560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.80C>T
  hgvsp: ENSP00000392553.2:p.Thr27Met
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.111C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.77C>T
  hgvsp: ENSP00000432122.1:p.Thr26Met
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-376C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.61C>T
  hgvsp: ENSP00000431771.1:p.Thr21Met
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.126C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.56C>T
  hgvsp: ENSP00000434555.1:p.Thr19Met
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2137G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.80C>T
  hgvsp: ENSP00000390622.2:p.Thr27Met
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.80C>T
  hgvsp: ENSP00000414522.2:p.Thr27Met
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4385G>A
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr27Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

8-38126505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126505
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126505
    reference: chr 8
allele count: 1
allele frequency: 1.234445980643887e-5
allele num: 81008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.59G>A
  hgvsp: ENST00000534339.1:c.59G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.78G>A
  hgvsp: ENST00000424479.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4383C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2135C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.78G>A
  hgvsp: ENST00000419686.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.54G>A
  hgvsp: ENST00000531109.1:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.78G>A
  hgvsp: ENST00000422581.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.109G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.124G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.75G>A
  hgvsp: ENST00000524616.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-378G>A
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val26Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/8-38126507-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126507
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126507
    reference: chr 8
allele count: 2
allele frequency: 2.517306482064191e-5
allele num: 79450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.122G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-48G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-380G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.76G>T
  hgvsp: ENSP00000392553.2:p.Val26Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.107G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.57G>T
  hgvsp: ENSP00000431771.1:p.Val20Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.52G>T
  hgvsp: ENSP00000434555.1:p.Val18Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.76G>T
  hgvsp: ENSP00000414522.2:p.Val26Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.76G>T
  hgvsp: ENSP00000390622.2:p.Val26Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4381C>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2133C>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.73G>T
  hgvsp: ENSP00000432122.1:p.Val25Leu
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val26Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

8-38126514-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126514
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126514
    reference: chr 8
allele count: 3
allele frequency: 4.079634464751958e-5
allele num: 73536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.72-6C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.51-6C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.121-6C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.75-6C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.75-6C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-381-6C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2126G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4374G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.56-6C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.75-6C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-55C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.106-6C>T
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19791
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.75-6C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

8-38126517-G-GAACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126517
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126521
    reference: chr 8
allele count: 1
allele frequency: 1.418640941977585e-5
allele num: 70490
alternate allele: GAACA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.51-13_51-10dupTGTT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.75-13_75-10dupTGTT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2120_88-2117dupCAAA
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.75-13_75-10dupTGTT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.56-13_56-10dupTGTT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-62_-59dupTGTT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.75-13_75-10dupTGTT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.121-13_121-10dupTGTT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4368_138-4365dupCAAA
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.106-13_106-10dupTGTT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.72-13_72-10dupTGTT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-381-13_-381-10dupTGTT
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22239
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

8-38126518-A-AACAAAGAAGCGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126518
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126530
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 70906
alternate allele: AACAAAGAAGCGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20215
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/8-38126521-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126521
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126521
    reference: chr 8
allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.121-13T>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-62T>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2119A>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.75-13T>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.75-13T>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.72-13T>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.51-13T>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.106-13T>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-381-13T>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.56-13T>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.75-13T>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4367A>C
  variant of: http://identifiers.org/hgnc/29106
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-38126522-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126522
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126520
    reference: chr 8
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.51-16_51-15delCT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.121-16_121-15delCT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.75-16_75-15delCT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-65_-64delCT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2116_88-2115delGA
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.56-16_56-15delCT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.106-16_106-15delCT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.75-16_75-15delCT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-381-16_-381-15delCT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4364_138-4363delGA
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.72-16_72-15delCT
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.75-16_75-15delCT
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: AAG
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

8-38126524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126524
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126524
    reference: chr 8
allele count: 1
allele frequency: 1.587301587301587e-5
allele num: 63000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.56-16C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4364G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.75-16C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2116G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-65C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.75-16C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.121-16C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.75-16C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-381-16C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.51-16C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.106-16C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.72-16C>T
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21484
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

8-38126529-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126529
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126529
    reference: chr 8
allele count: 12
allele frequency: 2.133409187882236e-4
allele num: 56248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.106-21C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-381-21C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.75-21C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.56-21C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.121-21C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.75-21C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2111G>C
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-70C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.75-21C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.72-21C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.51-21C>G
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4359G>C
  variant of: http://identifiers.org/hgnc/29106
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19707
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

8-38126530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126530
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126530
    reference: chr 8
allele count: 2
allele frequency: 3.833033079075473e-5
allele num: 52178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4358C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.121-22G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.72-22G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.106-22G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-381-22G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-71G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.51-22G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.75-22G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.75-22G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.56-22G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2110C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.75-22G>A
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18428
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-38126532-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126532
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126532
    reference: chr 8
allele count: 1
allele frequency: 1.971453355413611e-5
allele num: 50724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-73C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.51-24C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.72-24C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.75-24C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.56-24C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2108G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.75-24C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.121-24C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-381-24C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.75-24C>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4356G>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.106-24C>T
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21187
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17738
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

8-38126541-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126541
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126541
    reference: chr 8
allele count: 3
allele frequency: 8.137137897363567e-5
allele num: 36868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.56-33C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.106-33C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.75-33C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-381-33C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2099G>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.75-33C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.121-33C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4347G>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-82C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.51-33C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.72-33C>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.75-33C>A
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17122
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-38126554-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126554
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126554
    reference: chr 8
allele count: 1
allele frequency: 3.730229782154581e-5
allele num: 26808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.120+46G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-381-46G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.51-46G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.56-46G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.75-46G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-95G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.75-46G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.75-46G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.106-46G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2086C>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.72-46G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4334C>G
  variant of: http://identifiers.org/hgnc/29106
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26306
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

8-38126554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126554
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126554
    reference: chr 8
allele count: 1
allele frequency: 3.730229782154581e-5
allele num: 26808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.75-46G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.106-46G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.75-46G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.75-46G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-95G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-381-46G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4334C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2086C>T
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.51-46G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.72-46G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.120+46G>A
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.56-46G>A
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26306
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/8-38126558-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126558
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126558
    reference: chr 8
allele count: 1
allele frequency: 3.926804366606456e-5
allele num: 25466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.75-50G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.120+42G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.75-50G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.106-50G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.51-50G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4330C>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2082C>A
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.75-50G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-99G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-381-50G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.56-50G>T
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.72-50G>T
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

8-38126596-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126596
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126596
    reference: chr 8
allele count: 3
allele frequency: 2.168883747831116e-4
allele num: 13832
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.74+48G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.120+4G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.105+48G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.74+48G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-137G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.50+48G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2044C>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.71+48G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.74+48G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4292C>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-382+48G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.55+48G>C
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8132
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.120+4G>C
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

8-38126634-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126634
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126634
    reference: chr 8
allele count: 7
allele frequency: 6.159802886307638e-4
allele num: 11364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.105+10A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-382+10A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4254T>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.74+10A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.55+10A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2006T>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.50+10A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.71+10A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.86A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-175A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.74+10A>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.74+10A>C
  variant of: http://identifiers.org/hgnc/25026
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27049
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

8-38126635-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126635
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126633
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 11332
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.74+7_74+8delAA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.50+7_50+8delAA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.105+7_105+8delAA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-382+7_-382+8delAA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.83_84delAA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.74+7_74+8delAA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.74+7_74+8delAA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-178_-177delAA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.55+7_55+8delAA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.71+7_71+8delAA
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-2003_88-2002delTT
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4251_138-4250delTT
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26903
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.74+7_74+8delAA
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CTT
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

8-38126643-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126643
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126643
    reference: chr 8
allele count: 4
allele frequency: 3.578457684737878e-4
allele num: 11178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.71+1G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.74+1G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.74+1G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.55+1G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.105+1G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.77G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-382+1G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.50+1G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.74+1G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-184G>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4245C>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-1997C>G
  variant of: http://identifiers.org/hgnc/29106
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.74+1G>C
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

8-38126648-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38126648
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38126648
    reference: chr 8
allele count: 1
allele frequency: 8.97827258035554e-5
allele num: 11138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000432122
  ensembl transcript: ENST00000524616
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524616.1:c.67T>C
  hgvsp: ENSP00000432122.1:p.Phe23Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000392553
  ensembl transcript: ENST00000424479
  gene symbol: PPAPDC1B
  hgvsc: ENST00000424479.2:c.70T>C
  hgvsp: ENSP00000392553.2:p.Phe24Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000529872
  gene symbol: DDHD2
  hgvsc: ENST00000529872.1:n.138-4240A>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000437248
  ensembl transcript: ENST00000531823
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531823.1:c.-386T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434555
  ensembl transcript: ENST00000531109
  gene symbol: PPAPDC1B
  hgvsc: ENST00000531109.1:c.46T>C
  hgvsp: ENSP00000434555.1:p.Phe16Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000524409
  gene symbol: PPAPDC1B
  hgvsc: ENST00000524409.1:n.72T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000431771
  ensembl transcript: ENST00000534339
  gene symbol: PPAPDC1B
  hgvsc: ENST00000534339.1:c.51T>C
  hgvsp: ENSP00000431771.1:p.Phe18Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000390622
  ensembl transcript: ENST00000422581
  gene symbol: PPAPDC1B
  hgvsc: ENST00000422581.2:c.70T>C
  hgvsp: ENSP00000390622.2:p.Phe24Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000434916
  ensembl transcript: ENST00000529359
  gene symbol: PPAPDC1B
  hgvsc: ENST00000529359.1:c.-189T>C
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147535
  ensembl protein: ENSP00000414522
  ensembl transcript: ENST00000419686
  gene symbol: PPAPDC1B
  hgvsc: ENST00000419686.2:c.70T>C
  hgvsp: ENSP00000414522.2:p.Phe24Leu
  variant of: http://identifiers.org/hgnc/25026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085788
  ensembl transcript: ENST00000526071
  gene symbol: DDHD2
  hgvsc: ENST00000526071.1:n.88-1992A>G
  variant of: http://identifiers.org/hgnc/29106
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147535
  ensembl transcript: ENST00000528814
  gene symbol: PPAPDC1B
  hgvsc: ENST00000528814.1:n.101T>C
  variant of: http://identifiers.org/hgnc/25026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Phe24Leu
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 49
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1552
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11759
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29898
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5619
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 964
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.267105930055753e-4
allele num: 7892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.58e-2

MQ
type: SiteQuality
SIO_000300: 6.088e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.639e1

DP
type: SiteQuality
SIO_000300: 5.20597e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4702
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31349
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 9.75e1
variant carriers: 9

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 2.272727272727273e-3
allele num: 2200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQ
type: SiteQuality
SIO_000300: 4.969e1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: -1.92e0

QD
type: SiteQuality
SIO_000300: 7.05e0

DP
type: SiteQuality
SIO_000300: 4.7273e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.33e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeDepth
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 7.5e0
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 6

GenotypeQuality
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bin: 6.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 1028
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 578
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.012048192771084e-3
allele num: 332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.966887417218543e-3
allele num: 604
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.675943270002676e-4
allele num: 7474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.137665669089354e-4
allele num: 9356
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 9.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

DP
type: SiteQuality
SIO_000300: 4.63084e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.449e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

GenotypeDepth
all individuals: 63
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4444
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 184
bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 3

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.655629139072848e-3
allele num: 604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 1.496365968362548e-3
allele num: 9356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.675943270002676e-4
allele num: 7474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 9.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.449e-1

DP
type: SiteQuality
SIO_000300: 4.63084e5

QD
type: SiteQuality
SIO_000300: 4.28e0

GenotypeDepth
all individuals: 1331
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
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variant carriers: 0

GenotypeDepth
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 7332
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1045
bin: 2.5e0
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GenotypeQuality
all individuals: 114
bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
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variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 9.75e1
variant carriers: 8

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.560744162816831e-4
allele num: 32036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3698
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.152e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-1

DP
type: SiteQuality
SIO_000300: 6.38824e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeDepth
all individuals: 59
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4000
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4207
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20706
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5528
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variant carriers: 0

GenotypeQuality
all individuals: 673
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variant carriers: 0

GenotypeQuality
all individuals: 3087
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variant carriers: 0

GenotypeQuality
all individuals: 5238
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GenotypeQuality
all individuals: 1400
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GenotypeQuality
all individuals: 3401
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 2.5e0
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GenotypeQuality
all individuals: 932
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
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GenotypeQuality
all individuals: 186
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variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 8.75e1
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GenotypeQuality
all individuals: 181
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4724
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.701242571582928e-4
allele num: 3702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3346
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.57369e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

GenotypeDepth
all individuals: 167
bin: 4.75e1
variant carriers: 101

GenotypeDepth
all individuals: 1488
bin: 2.75e1
variant carriers: 420

GenotypeDepth
all individuals: 44
bin: 7.75e1
variant carriers: 35

GenotypeQuality
all individuals: 3566
bin: 2.75e1
variant carriers: 285

GenotypeQuality
all individuals: 747
bin: 7.75e1
variant carriers: 613

GenotypeQuality
all individuals: 3815
bin: 7.5e0
variant carriers: 196

GenotypeQuality
all individuals: 702
bin: 5.25e1
variant carriers: 491

GenotypeQuality
all individuals: 1260
bin: 4.75e1
variant carriers: 542

GenotypeQuality
all individuals: 14095
bin: 2.25e1
variant carriers: 653

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 514

GenotypeQuality
all individuals: 2791
bin: 3.75e1
variant carriers: 491

GenotypeQuality
all individuals: 2997
bin: 1.75e1
variant carriers: 507

GenotypeQuality
all individuals: 2475
bin: 1.25e1
variant carriers: 291

GenotypeQuality
all individuals: 780
bin: 8.25e1
variant carriers: 701

GenotypeQuality
all individuals: 4571
bin: 3.25e1
variant carriers: 529

GenotypeQuality
all individuals: 3185
bin: 2.5e0
variant carriers: 89

GenotypeQuality
all individuals: 480
bin: 7.25e1
variant carriers: 380

GenotypeQuality
all individuals: 12218
bin: 9.75e1
variant carriers: 11979

GenotypeQuality
all individuals: 394
bin: 5.75e1
variant carriers: 309

GenotypeQuality
all individuals: 1147
bin: 4.25e1
variant carriers: 379

GenotypeQuality
all individuals: 719
bin: 6.75e1
variant carriers: 298

GenotypeQuality
all individuals: 698
bin: 8.75e1
variant carriers: 666

GenotypeQuality
all individuals: 2544
bin: 6.25e1
variant carriers: 229

European (Finnish)
type: Population
allele count: 793
allele frequency: 2.251561612720046e-1
allele num: 3522
num of homozygotes: 80

Other
type: Population
allele count: 120
allele frequency: 2.884615384615384e-1
allele num: 416
num of homozygotes: 16

African
type: Population
allele count: 1331
allele frequency: 2.573472544470224e-1
allele num: 5172
num of homozygotes: 143

South Asian
type: Population
allele count: 677
allele frequency: 1.624280230326296e-1
allele num: 4168
num of homozygotes: 56

Latino
type: Population
allele count: 1336
allele frequency: 2.953138815207781e-1
allele num: 4524
num of homozygotes: 144

European (Non-Finnish)
type: Population
allele count: 9411
allele frequency: 2.655324191637041e-1
allele num: 35442
num of homozygotes: 1016

East Asian
type: Population
allele count: 1588
allele frequency: 3.710280373831776e-1
allele num: 4280
num of homozygotes: 251

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.99521e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.768e1

GenotypeDepth
all individuals: 14
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 52
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 1722
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variant carriers: 0

GenotypeQuality
all individuals: 1591
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GenotypeQuality
all individuals: 7395
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GenotypeQuality
all individuals: 4529
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GenotypeQuality
all individuals: 664
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GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 390
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 2.5e0
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GenotypeQuality
all individuals: 2490
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
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GenotypeQuality
all individuals: 5629
bin: 2.75e1
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GenotypeQuality
all individuals: 127
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GenotypeQuality
all individuals: 3881
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variant carriers: 0

GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 22002
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GenotypeQuality
all individuals: 5924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
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GenotypeQuality
all individuals: 222
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.985094490284801e-5
allele num: 37570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 5.131e0

QD
type: SiteQuality
SIO_000300: 1.525e1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

DP
type: SiteQuality
SIO_000300: 7.02242e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 29
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24674
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 153
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variant carriers: 0

GenotypeQuality
all individuals: 390
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variant carriers: 3

GenotypeQuality
all individuals: 432
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GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 125
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GenotypeQuality
all individuals: 1536
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GenotypeQuality
all individuals: 7236
bin: 3.25e1
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GenotypeQuality
all individuals: 554
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variant carriers: 0

GenotypeQuality
all individuals: 3676
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variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
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GenotypeQuality
all individuals: 6701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4394
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22505
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 2193
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GenotypeQuality
all individuals: 227
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 5554
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GenotypeQuality
all individuals: 869
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.297451925623775e-5
allele num: 37754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.227e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 3.399e0

DP
type: SiteQuality
SIO_000300: 7.13136e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4298
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7651
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5483
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5138
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.083e0

QD
type: SiteQuality
SIO_000300: 5.77e0

DP
type: SiteQuality
SIO_000300: 7.24144e5

FS
type: SiteQuality
SIO_000300: 5.849e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeDepth
all individuals: 14
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2145
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5415
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3299
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8027
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7016
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38336
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.941747572815534e-4
allele num: 5150
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.241147467503362e-4
allele num: 4462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5534
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.31328e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 29
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6811
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3086
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 352
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3985
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.790189760114572e-4
allele num: 5586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38832
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

FS
type: SiteQuality
SIO_000300: 3.276e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 7.46565e5

VQSLOD
type: SiteQuality
SIO_000300: -4.931e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

QD
type: SiteQuality
SIO_000300: 7.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6012
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 248
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 846
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 930
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24041
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4911
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 9.75e1
variant carriers: 67

GenotypeQuality
all individuals: 1122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12964
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 301
bin: 5.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 55
allele frequency: 1.354146149300768e-3
allele num: 40616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.557544757033248e-4
allele num: 3910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5070
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.611170784103115e-3
allele num: 5586
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 5.1440329218107e-4
allele num: 5832
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 8.139999999999999e-1

DP
type: SiteQuality
SIO_000300: 7.9175e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeDepth
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5655
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4693
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23998
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2891
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 825
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.687478906513669e-4
allele num: 5926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41376
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.11841e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.283e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.067e0

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-1

GenotypeDepth
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16003
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2774
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4380
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2444
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23469
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 274
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.359046945034206e-5
allele num: 42390
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 6.435e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -1.858e0

DP
type: SiteQuality
SIO_000300: 8.42217e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

QD
type: SiteQuality
SIO_000300: 2.348e1

GenotypeDepth
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23145
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18578
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.456529647144416e-4
allele num: 5498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.543e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQ
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BaseQRankSum
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SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 8.67154e5

QD
type: SiteQuality
SIO_000300: 1.077e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -8.33e-1

GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45652
num of homozygotes: 0

African
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allele frequency: 1.550387596899225e-4
allele num: 6450
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 6710
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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SIO_000300: 1.21e0

QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -2.636e0

FS
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DP
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 482
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46030
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 6.793478260869565e-4
allele num: 5888
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

FS
type: SiteQuality
SIO_000300: 8.56e-1

MQRankSum
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DP
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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SIO_000300: 1.35e-1

VQSLOD
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ReadPosRankSum
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SIO_000300: 2.44e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6762
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.126774513040608e-5
allele num: 48464
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.234e0

BaseQRankSum
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SIO_000300: -1.867e0

QD
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 9.88e-1

ReadPosRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

InbreedingCoeff
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SIO_000300: -2.8e-3

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4204
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6728
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.985466386054084e-5
allele num: 50366
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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East Asian
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Other
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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QD
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DP
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 9

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 44
allele frequency: 8.73605209863797e-4
allele num: 50366
num of homozygotes: 0

East Asian
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African
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allele num: 6728
num of homozygotes: 0

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

European (Finnish)
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Other
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Latino
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East Asian
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African
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European (Non-Finnish)
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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European (Non-Finnish)
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allele frequency: 1.904326630103595e-5
allele num: 52512
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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South Asian
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Other
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

South Asian
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African
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East Asian
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European (Non-Finnish)
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allele num: 50964
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European (Finnish)
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Other
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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African
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South Asian
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Latino
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East Asian
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Other
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DP
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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FS
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QD
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ClippingRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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Other
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FS
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VQSLOD
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MQRankSum
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QD
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DP
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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Latino
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Other
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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QD
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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South Asian
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East Asian
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Latino
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African
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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MQ
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ClippingRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 1.098901098901099e-4
allele num: 9100
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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African
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allele frequency: 1.31891321551042e-4
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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QD
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DP
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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Other
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African
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allele num: 7724
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Latino
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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DP
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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Latino
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Other
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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MQ
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QD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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African
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Other
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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BaseQRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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FS
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DP
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VQSLOD
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ClippingRankSum
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SIO_000300: -7.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.655e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.36e1

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 387
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.527834615113243e-5
allele num: 56692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5314
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.96e0

BaseQRankSum
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SIO_000300: -1.591e0

VQSLOD
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SIO_000300: -7.851e-1

InbreedingCoeff
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SIO_000300: -1.9e-3

ClippingRankSum
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SIO_000300: 4.74e-1

QD
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SIO_000300: 6.16e0

MQRankSum
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SIO_000300: 1.77e-1

ReadPosRankSum
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SIO_000300: -5.9e-2

DP
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SIO_000300: 1.168259e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 85

GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 1
allele frequency: 1.0827197921178e-4
allele num: 9236
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5212
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.516436722875149e-5
allele num: 11742
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7382
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55820
num of homozygotes: 0

African
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allele count: 81
allele frequency: 1.03952772073922e-2
allele num: 7792
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.404494382022472e-3
allele num: 712
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.9e-3

MQRankSum
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SIO_000300: -1.191e0

ReadPosRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
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SIO_000300: 3.22e-1

ClippingRankSum
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SIO_000300: -5.25e-1

VQSLOD
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SIO_000300: 2.35e0

MQ
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SIO_000300: 5.59e1

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11764
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.096731739416539e-4
allele num: 9118
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7324
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.804923832214281e-5
allele num: 55404
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

QD
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VQSLOD
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ReadPosRankSum
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MQ
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SIO_000300: 5.82e1

FS
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InbreedingCoeff
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DP
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BaseQRankSum
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SIO_000300: -2.27e0

MQRankSum
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SIO_000300: 1.51e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.819836214740673e-5
allele num: 54950
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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8992
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

MQ
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SIO_000300: 5.934e1

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4970
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.745458631409416e-5
allele num: 53398
num of homozygotes: 0

East Asian
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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

African
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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QD
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ClippingRankSum
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FS
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MQ
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.95e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 53398
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11828
num of homozygotes: 0

European (Finnish)
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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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African
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Latino
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Other
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 1.3598041881969e-4
allele num: 7354
num of homozygotes: 0

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

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

East Asian
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Other
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South Asian
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European (Finnish)
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
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MQRankSum
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QD
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FS
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InbreedingCoeff
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SIO_000300: -2.9e-3

VQSLOD
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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SIO_000300: -2.06e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 51050
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African
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allele frequency: 2.804262478968031e-4
allele num: 7132
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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VQSLOD
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QD
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4608
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 8.555783709787816e-5
allele num: 11688
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 2.51e-1

InbreedingCoeff
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QD
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MQRankSum
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FS
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VQSLOD
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DP
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MQ
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ClippingRankSum
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -2.725e0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.120081411126187e-5
allele num: 47168
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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SIO_000300: -9.78e-1

ClippingRankSum
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SIO_000300: 3.18e-1

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4326
num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 8.592541673827119e-5
allele num: 46552
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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MQRankSum
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SIO_000300: -1.02e-1

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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allele frequency: 1.440922190201729e-4
allele num: 6940
num of homozygotes: 0

European (Finnish)
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South Asian
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Other
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European (Non-Finnish)
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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African
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East Asian
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FS
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DP
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.427537990969559e-5
allele num: 41194
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.592e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

QD
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SIO_000300: 1.306e1

DP
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SIO_000300: 7.81595e5

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 11
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 5.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5760
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.0e-3
allele num: 500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5596
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

QD
type: SiteQuality
SIO_000300: 1.212e1

ReadPosRankSum
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SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.238e0

DP
type: SiteQuality
SIO_000300: 7.49698e5

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10756
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39628
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.219e0

ClippingRankSum
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SIO_000300: 1.65e0

BaseQRankSum
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SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
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SIO_000300: -1.09e-2

DP
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SIO_000300: 7.48425e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.49e0

MQ
type: SiteQuality
SIO_000300: 4.824e1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 145
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37060
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.554748710108924e-5
allele num: 10466
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.06804e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

QD
type: SiteQuality
SIO_000300: 1.337e1

MQRankSum
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SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

VQSLOD
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SIO_000300: -1.698e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 861
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3370
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.556574923547401e-5
allele num: 10464
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37124
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
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SIO_000300: 1.153e1

DP
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SIO_000300: 7.0616e5

MQRankSum
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SIO_000300: 4.31e-1

MQ
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SIO_000300: 5.997e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35102
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3178
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.382086707956169e-4
allele num: 4198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.24e1

MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -6.33e-1

FS
type: SiteQuality
SIO_000300: 3.074e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 31232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 12
allele frequency: 3.376477208778841e-3
allele num: 3554
num of homozygotes: 0

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

Other
type: Population
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DP
type: SiteQuality
SIO_000300: 6.36229e5

VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 168
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variant carriers: 0

South Asian
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allele count: 2
allele frequency: 2.122241086587436e-4
allele num: 9424
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28884
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 2520
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 166
bin: 7.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 1.067919692439129e-4
allele num: 9364
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3536
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27948
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.6245e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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DP
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ClippingRankSum
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.61e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 1.549e1

VQSLOD
type: SiteQuality
SIO_000300: -1.803e0

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
all individuals: 187
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19618
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2050
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 9.715025906735751e-4
allele num: 3088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1824
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 5.61e0

BaseQRankSum
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SIO_000300: -7.27e-1

ReadPosRankSum
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SIO_000300: 3.8e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -3.53e-2

MQRankSum
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SIO_000300: 1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

DP
type: SiteQuality
SIO_000300: 5.27545e5

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
all individuals: 200
bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2334
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13302
num of homozygotes: 0

East Asian
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allele frequency: 9.940357852882703e-4
allele num: 1006
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQRankSum
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InbreedingCoeff
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DP
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FS
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QD
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BaseQRankSum
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VQSLOD
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SIO_000300: -1.476e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 487
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GenotypeQuality
all individuals: 270
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2334
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.517666516313337e-5
allele num: 13302
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
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FS
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SIO_000300: 0.0e0

VQSLOD
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BaseQRankSum
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SIO_000300: 5.5e-1

ReadPosRankSum
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SIO_000300: 6.840000000000001e-1

ClippingRankSum
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SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.54e-2

DP
type: SiteQuality
SIO_000300: 4.77625e5

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 8.058017727639001e-5
allele num: 12410
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2188
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.76112e5

MQRankSum
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VQSLOD
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 1.57e0

BaseQRankSum
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InbreedingCoeff
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -7.41e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.912363067292645e-4
allele num: 7668
num of homozygotes: 1

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
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ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 4.256e0

MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: -7.85e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.02e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 834
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.421800947867299e-2
allele num: 422
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2914
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 6.024096385542169e-3
allele num: 166
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.348e0

MQ
type: SiteQuality
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 2.86e-1

QD
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SIO_000300: 1.24e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 209
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24716
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.178e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 7.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.82e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

DP
type: SiteQuality
SIO_000300: 2.23903e5

GenotypeDepth
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3931
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22569
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 158
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.4194464158978e-3
allele num: 2818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1208e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.78e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.012e0

VQSLOD
type: SiteQuality
SIO_000300: -3.8e-3

QD
type: SiteQuality
SIO_000300: 1.147e1

DP
type: SiteQuality
SIO_000300: 2.14038e5